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Genes:
A1BG, ABCA7, ABHD17A, ABHD8, AC006486.1, AC012313.1, AC018755.1, AC020907.1, AC020922.1, AC074212.3, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADCK4, ADM5, AES, AKAP8L, ALDH16A1, AMH, ANGPTL4, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP3D1, APBA3, APOC4, ARHGAP33, ARHGEF1, ARHGEF18, ARID3A, ARRDC2, ASF1B, ATP1A3, ATP4A, ATP5SL, ATP8B3, AXL, B3GNT3, B3GNT8, B9D2, BCAM, BCAT2, BCKDHA, BIRC8, BLVRB, BRD4, BSG, BTBD2, C19orf12, C19orf24, C19orf26, C19orf33, C19orf35, C19orf40, C19orf44, C19orf54, C19orf55, C19orf57, C19orf66, C19orf68, C19orf73, C19orf81, C3, C5AR1, CACNA1A, CACTIN, CALR3, CAMSAP3, CAPN12, CAPS, CARD8, CATSPERG, CC2D1A, CCDC105, CCDC124, CCDC155, CCDC61, CCDC9, CCDC94, CCDC97, CCL25, CD177, CD320, CD33, CD37, CD3EAP, CD97, CDC34, CDKN2D, CEACAM1, CEACAM16, CEACAM18, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM8, CELF5, CEP89, CHAF1A, CHERP, CIB3, CIC, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC4M, CLPTM1, CNN2, CNOT3, COL5A3, COLGALT1, COPE, CPAMD8, CRB3, CRTC1, CTB-102L5.4, CTD-3193O13.9, CYP2A6, CYP2A7, CYP2B6, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DAND5, DCAF15, DEDD2, DENND1C, DHDH, DKKL1, DLL3, DMKN, DMRTC2, DMWD, DNM2, DNMT1, DOCK6, DOT1L, DPF1, DPY19L3, DUS3L, EBI3, ECH1, EEF2, EHD2, EID2B, EIF3G, ELAVL1, ELSPBP1, EMC10, EML2, EMR1, EMR2, EMR3, ERCC1, ERCC2, ERVV-1, ERVV-2, ETFB, ETV2, EVI5L, EXOSC5, FAM129C, FAM187B, FAM71E2, FAM83E, FBN3, FCAR, FCGBP, FCGRT, FCHO1, FFAR1, FFAR2, FFAR3, FGF22, FPR1, FUT2, FUT3, FUT5, FUT6, FXYD3, FXYD5, GALP, GFY, GIPC1, GLTSCR1, GLTSCR2, GNA15, GP6, GPATCH1, GPR108, GPR32, GPR42, GPX4, GRAMD1A, GRIN3B, GRWD1, GSK3A, GTPBP3, GZMM, HAS1, HAUS8, HCN2, HDGFRP2, HIF3A, HKR1, HMHA1, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HRC, HSD17B14, HSH2D, HSPBP1, ICAM1, ICAM3, ICAM5, IFI30, IGFL2, IGFLR1, IGSF23, IL11, IL12RB1, IL4I1, ILF3, ILVBL, INSL3, ISYNA1, KANK2, KCNA7, KCNK6, KDM4B, KHSRP, KIAA1683, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, KIRREL2, KLF1, KLHL26, KLK1, KLK12, KLK14, KLK2, KLK3, KLK4, KLK5, KLK7, KMT2B, KRI1, LAIR2, LDLR, LENG8, LENG9, LGALS14, LGALS16, LGI4, LILRA2, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LINGO3, LMNB2, LPAR2, LPHN1, LRG1, LRP3, LRRC4B, LRRC8E, LSR, LTBP4, LYPD5, MADCAM1, MAG, MAN2B1, MAP1S, MAP2K2, MAP3K10, MARCH2, MAST1, MAST3, MAU2, MBD3L1, MBOAT7, MED16, MEGF8, MOB3A, MPV17L2, MUC16, MVB12A, MYBPC2, MYH14, MYO9B, MYPOP, MZF1, NACC1, NANOS3, NAPSA, NCLN, NDUFA11, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NMRK2, NOSIP, NOTCH3, NOVA2, NPHS1, NR1H2, NRTN, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, OCEL1, ODF3L2, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, OSCAR, PAK4, PAPL, PCP2, PCSK4, PDE4A, PDE4C, PEG3, PEX11G, PGLS, PIAS4, PIH1D1, PIK3R2, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLK5, PNMAL1, POLR2E, POLRMT, PPAN-P2RY11, PPAP2C, PPM1N, PPP1R15A, PPP1R37, PPP5D1, PRAM1, PRKCG, PRKCSH, PRKD2, PRR12, PRRG2, PRSS57, PRX, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSMD8, PSPN, PTGER1, PTPRH, PTPRS, PVR, PVRL2, QPCTL, RAB8A, RANBP3, RCN3, RDH13, RDH8, REXO1, RFPL4A, RFPL4AL1, RFX2, RGL3, RHPN2, RLN3, RNF126, RPS16, RPS9, RRAS, RYR1, S1PR4, S1PR5, SAMD1, SBK2, SBK3, SBNO2, SCAF1, SCN1B, SDHAF1, SELV, SERTAD1, SH2D3A, SHANK1, SHC2, SHD, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC35E1, SLC39A3, SLC44A2, SMARCA4, SPHK2, SPTBN4, SRRM5, SSBP4, SSC5D, STXBP2, SUGP2, SULT2A1, SUPT5H, SUV420H2, SYNE4, SYT3, TARM1, TBC1D17, TDRD12, TGFB1, THAP8, THEG, TICAM1, TIMM13, TIMM50, TJP3, TLE6, TMC4, TMEM143, TMEM150B, TMEM221, TMEM259, TMEM59L, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFSF14, TNNT1, TPGS1, TRIP10, TSEN34, TSHZ3, TSKS, TTYH1, TUBB4A, TYK2, U2AF1L4, U2AF2, UBA2, UBE2M, UBXN6, UNC13A, UPF1, UPK1A, URI1, USE1, USF2, USHBP1, USP29, VN1R1, VSIG10L, VSTM1, WDR18, WDR62, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, YIF1B, ZBTB32, ZBTB45, ZFP28, ZFP82, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF112, ZNF132, ZNF135, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF181, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF227, ZNF229, ZNF233, ZNF235, ZNF256, ZNF260, ZNF264, ZNF266, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF320, ZNF324, ZNF331, ZNF333, ZNF347, ZNF350, ZNF382, ZNF404, ZNF415, ZNF417, ZNF419, ZNF429, ZNF431, ZNF432, ZNF440, ZNF441, ZNF443, ZNF45, ZNF460, ZNF468, ZNF470, ZNF471, ZNF480, ZNF490, ZNF497, ZNF507, ZNF524, ZNF525, ZNF527, ZNF529, ZNF530, ZNF534, ZNF540, ZNF543, ZNF548, ZNF549, ZNF550, ZNF552, ZNF554, ZNF555, ZNF557, ZNF559, ZNF563, ZNF565, ZNF566, ZNF567, ZNF568, ZNF57, ZNF571, ZNF573, ZNF574, ZNF577, ZNF578, ZNF579, ZNF582, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF600, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF628, ZNF649, ZNF665, ZNF667, ZNF675, ZNF676, ZNF677, ZNF681, ZNF701, ZNF708, ZNF709, ZNF714, ZNF724P, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF749, ZNF765, ZNF77, ZNF772, ZNF773, ZNF780A, ZNF780B, ZNF788, ZNF790, ZNF792, ZNF793, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF845, ZNF850, ZNF878, ZNF880, ZNF91, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN5A, ZSCAN5B, ZSCAN5C, ZSCAN5D,

Genes at Omim

ABCA7, ACTN4, ADAMTS10, ADCK4, AMH, ANGPTL4, AP3D1, ATP1A3, B9D2, BCAT2, BCKDHA, BSG, C19orf12, C3, CACNA1A, CALR3, CC2D1A, CD320, CEACAM16, CLEC4M, CRTC1, CYP2A6, CYP2B6, DLL3, DNM2, DNMT1, DOCK6, EEF2, ERCC1, ERCC2, ETFB, FUT2, FUT3, FUT6, GP6, GPX4, GTPBP3, ICAM1, IL12RB1, INSL3, KANK2, KIR3DL1, KLF1, KLK1, KLK4, LDLR, LMNB2, LTBP4, MAG, MAN2B1, MAP2K2, MEGF8, MYH14, MYO9B, NDUFA11, NLRP12, NOTCH3, NPHS1, NTF4, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PRKCG, PRKCSH, PRX, RYR1, SCN1B, SDHAF1, SIPA1L3, SIX5, SMARCA4, STXBP2, SYNE4, TGFB1, TICAM1, TLE6, TNNT1, TSEN34, TUBB4A, TYK2, WDR62,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
ADCK4 Nephrotic syndrome, type 9, 615573 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
B9D2 Meckel syndrome 10, 614175 (3)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
BSG [Blood group, OK], 111380 (3)
C19orf12 ?Spastic paraplegia 43, autosomal recessive, 615043 (3)
Neurodegeneration with brain iron accumulation 4, 614298 (3)
C3 C3 deficiency, 613779 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CALR3 ?Cardiomyopathy, hypertrophic, 19, 613875 (3)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
CD320 Methylmalonic aciduria due to transcobalamin receptor defect, 613646 (3)
CEACAM16 Deafness, autosomal dominant 4B, 614614 (3)
CLEC4M SARS infection, protection against (2)
CRTC1 Mucoepidermoid salivary gland carcinoma (3)
CYP2A6 Coumarin resistance, 122700 (3)
{Lung cancer, resistance to}, 211980 (3)
{Nicotine addiction, protection from}, 188890 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNM2 Charcot-Marie-Tooth disease, axonal, type 2M, 606482 (3)
Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)
Lethal congenital contracture syndrome 5, 615368 (3)
Myopathy, centronuclear, 160150 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DOCK6 Adams-Oliver syndrome 2, 614219 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ERCC2 Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Xeroderma pigmentosum, group D, 278730 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
FUT2 [Bombay phenotype] (3)
{Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
ICAM1 {Malaria, cerebral, susceptibility to}, 611162 (3)
IL12RB1 Immunodeficiency 30, 614891 (3)
INSL3 Cryptorchidism, 219050 (3)
KANK2 Palmoplantar keratoderma and woolly hair, 616099 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KLF1 Blood group--Lutheran inhibitor, 111150 (3)
Dyserythropoietic anemia, congenital, type IV, 613673 (3)
[Hereditary persistence of fetal hemoglobin], 613566 (3)
KLK1 [Kallikrein, decreased urinary activity of], 615953 (3)
KLK4 Amelogenesis imperfecta, type IIA1, 204700 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LMNB2 ?Epilepsy, progressive myoclonic, 9, 616540 (3)
{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAG Spastic paraplegia 75, autosomal recessive, 616680 (3)
MAN2B1 Mannosidosis, alpha-, types I and II, 248500 (3)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MEGF8 Carpenter syndrome 2, 614976 (3)
MYH14 ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
Deafness, autosomal dominant 4A, 600652 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFA11 Mitochondrial complex I deficiency, 252010 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NOTCH3 ?Myofibromatosis, infantile 2, 615293 (3)
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)
Lateral meningocele syndrome, 130720 (3)
NPHS1 Nephrotic syndrome, type 1, 256300 (3)
NTF4 Glaucoma 1, open angle, 1O, 613100 (3)
NUP62 Striatonigral degeneration, infantile, 271930 (3)
OPA3 3-methylglutaconic aciduria, type III, 258501 (3)
Optic atrophy 3 with cataract, 165300 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIP5K1C Lethal congenital contractural syndrome 3, 611369 (3)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
RYR1 Central core disease, 117000 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
SCN1B Atrial fibrillation, familial, 13, 615377 (3)
Brugada syndrome 5, 612838 (3)
Cardiac conduction defect, nonspecific, 612838 (3)
Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SIPA1L3 ?Cataract 45, 616851 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
SYNE4 Deafness, autosomal recessive 76, 615540 (3)
TGFB1 Camurati-Engelmann disease, 131300 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TICAM1 {Herpes simplex encephalitic, susceptibility to, 6}, 614850 (3)
TLE6 Preimplantation embryonic lethality, 616814 (3)
TNNT1 Nemaline myopathy 5, Amish type, 605355 (3)
TSEN34 ?Pontocerebellar hypoplasia type 2C, 612390 (3)
TUBB4A Dystonia 4, torsion, autosomal dominant, 128101 (3)
Leukodystrophy, hypomyelinating, 6, 612438 (3)
TYK2 Immunodeficiency 35, 611521 (3)
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)

Genes at Clinical Genomics Database

ACTN4, ADAMTS10, ADCK4, AMH, ATP1A3, B9D2, BCAM, BCKDHA, BSG, C3, CACNA1A, CALR3, CC2D1A, CD320, CEACAM16, CYP2A6, CYP2B6, CYP4F2, DLL3, DNM2, DNMT1, DOCK6, ERCC1, ERCC2, ETFB, FUT3, FUT6, GP6, GPX4, GTPBP3, IL12RB1, INSL3, KANK2, KLF1, KLK4, LDLR, LMNB2, LTBP4, MAG, MAN2B1, MAP2K2, MEGF8, MYH14, NDUFA11, NLRP12, NLRP7, NOTCH3, NPHS1, NTF4, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PRKCG, PRKCSH, PRX, RYR1, SCN1B, SDHAF1, SIPA1L3, SIX5, SMARCA4, STXBP2, SYNE4, TGFB1, TICAM1, TLE6, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, ZIM2, ZNF480, ZNF565,
ACTN4 Focal segmental glomerulosclerosis 1
ADAMTS10 Weill-Marchesani syndrome 1
ADCK4 Nephrotic syndrome, type 9
AMH Persistent Mullerian duct syndrome, type I
ATP1A3 Alternating hemiplegia of childhood 2
B9D2 Meckel syndrome 10
BCAM Lutheran, null
Blood group, Auberger system
Blood group, Lutheran system
BCKDHA Maple syrup urine disease, type Ia
BSG Blood group, OK
C3 Hemolytic uremic syndrome, atypical, susceptibility to, 5
Complement component 3 deficiency, autosomal recessive
CACNA1A Migraine, familial hemiplegic 1
Episodic ataxia, type 2
CALR3 Cardiomyopathy, familial hypertrophic, 19
CC2D1A Mental retardation, autosomal recessive 3
CD320 Methylmalonic aciduria due to transcobalamin receptor defect
CEACAM16 Deafness, autosomal dominant 4B
CYP2A6 CYP2A6-related drug metabolism
CYP2B6 Efavirenz, poor metabolism of
CYP4F2 Warfarin metabolism
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DNM2 Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive
Myopathy, centronuclear
Charcot-Marie-Tooth disease, axonal, type 2M
Charcot-Marie-Tooth disease, dominant intermediate B
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Neuropathy, hereditary sensory, type IE
DOCK6 Adams-Oliver syndrome 2
ERCC1 Cerebrooculofacioskeletal syndrome 4
ERCC2 Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
ETFB Glutaric aciduria II
Multiple acyl-CoA dehydrogenase deficiency
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
GP6 Bleeding disorder, platelet-type, 11
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GTPBP3 Combined oxidative phosphorylation deficiency 23
IL12RB1 Immunodeficiency 30
INSL3 Cryptorchidism
KANK2 Palmoplantar keratoderma and woolly hair
KLF1 Blood group, Lutheran inhibitor
Anemia, dyserythropoietic congenital, type IV
KLK4 Amelogenesis imperfecta, type IIA1
LDLR Hypercholesterolemia, familial
LMNB2 Epilepsy, progressive myoclonic, 9
Liopdystrophy, partial, acquired
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAG Spastic paraplegia, autosomal recessive 75
MAN2B1 Mannosidosis, alpha B, lysosomal
MAP2K2 Cardiofaciocutaneous syndrome
MEGF8 Carpenter syndrome 2
MYH14 Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Deafness, autosomal dominant 4B
Deafness, autosomal dominant 4
NDUFA11 Mitochondrial complex I deficiency
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP7 Hydatidiform mole, recurrent, 1
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
NPHS1 Nephrotic syndrome, type 1
NTF4 Glaucoma 1, open angle, O
NUP62 Striatonigral degeneration, infantile
OPA3 Optic atrophy 3, autosomal dominant
3-methylglutaconic aciduria, type III
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PRKCG Spinocerebellar ataxia 14
PRKCSH Polycystic liver disease
PRX Charcot-Marie-Tooth disease, type 4F
Dejerine-Sottas disease
RYR1 Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
Minicore myopathy with external ophthalmoplegia
Multicore myopathy
Minicore myopathy
Central core disease
Malignant hyperthermia, susceptibility 1
SCN1B Brugada syndrome 5
Atrial fibrillation, familial 13
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
SIX5 Branchiootorenal syndrome 2
SMARCA4 Rhabdoid tumor predisposition syndrome 2
STXBP2 Hemophagocytic lymphohistiocytosis, familial 5
SYNE4 Deafness, autosomal recessive, 76
TGFB1 Camurati-Engelmann disease
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TLE6 Preimplantation embryonic lethality
TNNT1 Nemaline myopathy 5
TSEN34 Pontocerebellar hypoplasia type 2C
TUBB4A Leukodystrophy, hypomyelinating, 6
Dystonia 4, torsion, autosomal dominant
TYK2 Immunodeficiency 35
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2 Schizophrenia
ZNF480 Schizophrenia
ZNF565 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 4873
Number of Genes: 705

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs55848814
dbSNP
15730498 1812.73 G GC PASS 1/1 38 None None None 1.00000 1.00000 0.00032 None None None None None None None
View hp37_1_filt_10x 19 rs424147
dbSNP
44511223 764.77 T G PASS 1/1 31 None None None 0.97185 0.97180 0.03491 None None None None None None None

ZNF155

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs388812
dbSNP
44501116 2416.77 A G PASS 1/1 85 SYNONYMOUS_CODING LOW SILENT 0.90655 0.90650 0.09903 None None None None None None None
View hp37_1_filt_10x 19 rs448921
dbSNP
44500761 2750.77 G A PASS 1/1 117 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89736 0.89740 0.10526 0.55 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs398235
dbSNP
44500478 1025.77 A T PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97764 0.97760 0.02261 1.00 0.00 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs62126349
dbSNP
55777143 215.84 T C PASS 1/1 10 None None None 0.56430 0.56430 None None None None None None None

ZNF221

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs366111
dbSNP
44471323 941.77 G A PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85024 0.85020 0.14163 0.03 0.00 None None None None None None None

AKAP8L

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2058322
dbSNP
15508362 329.78 G C PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.71 0.00 None None None None None None None

ZNF221

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs365745
dbSNP
44471209 799.77 T A PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73642 0.73640 0.24650 0.08 0.06 None None None None None None None
View hp37_1_filt_10x 19 rs435590
dbSNP
44470663 2901.77 G C PASS 1/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95827 0.95830 0.04529 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs453640
dbSNP
44470548 2360.77 A G PASS 1/1 103 SYNONYMOUS_CODING LOW SILENT 0.96126 0.96130 0.04375 None None None None None None None
View hp37_1_filt_10x 19 rs439676
dbSNP
44470420 2128.77 T C PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84505 0.84500 0.14878 0.00 1.00 None None None None None None None
View hp37_1_filt_10x 19 rs454301
dbSNP
44470189 1723.77 T A PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94369 0.94370 0.06097 0.10 0.17 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs451601
dbSNP
44469577 254.8 T G PASS 1/1 10 None None None 0.94329 0.94330 None None None None None None None
View hp37_1_filt_10x 19 rs2074072
dbSNP
58003613 1835.77 C T PASS 1/1 76 None None None 0.69549 0.69550 0.33931 None None None None None None None

ZNF419

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2074071
dbSNP
58003580 1651.77 A G PASS 1/1 72 None None None 0.69549 0.69550 0.33923 1.00 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs10422818
dbSNP
15285272 894.77 T C PASS 1/1 35 None None None 0.85044 0.85040 None None None None None None None

NOTCH3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs1044006
dbSNP
15285052 465.77 T C PASS 1/1 18 SYNONYMOUS_CODING LOW SILENT 0.87181 0.87180 0.07386 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs1548555
dbSNP
15278057 645.77 A G PASS 1/1 26 None None None 0.87001 0.87000 0.07635 None None None None None None None
View hp37_1_filt_10x 19 rs1548554
dbSNP
15277938 348.78 C T PASS 1/1 15 None None None 0.87001 0.87000 None None None None None None None
View hp37_1_filt_10x 19 rs10416777
dbSNP
15276923 267.8 C T PASS 1/1 12 None None None 0.86661 0.86660 0.07766 None None None None None None None
View hp37_1_filt_10x 19 rs2074619
dbSNP
15276919 263.8 G A PASS 1/1 12 None None None 0.86661 0.86660 0.07781 None None None None None None None
View hp37_1_filt_10x 19 rs2074618
dbSNP
15276143 570.77 C T PASS 1/1 23 None None None 0.86661 0.86660 0.07781 None None None None None None None
View hp37_1_filt_10x 19 rs2074617
dbSNP
15276055 241.8 C G PASS 1/1 10 None None None 0.86661 0.86660 None None None None None None None
View hp37_1_filt_10x 19 rs4809030
dbSNP
15273381 514.77 A G PASS 1/1 20 None None None 0.86901 0.86900 0.07673 None None None None None None None
View hp37_1_filt_10x 19 rs4141356
dbSNP
15235932 479.77 G A PASS 1/1 16 None None None 0.46226 0.46230 None None None None None None None
View hp37_1_filt_10x 19 rs28678477
dbSNP
55741961 225.84 G C PASS 1/1 10 None None None 0.46566 0.46570 0.47973 None None None None None None None
View hp37_1_filt_10x 19 rs2074266
dbSNP
15233631 635.77 G A PASS 1/1 27 None None None 0.44948 0.44950 0.44026 None None None None None None None

ILVBL

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2074265
dbSNP
15233581 547.77 C A PASS 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.55691 0.55690 0.44187 None None None None None None None

ZNF45

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs420242
dbSNP
44419030 2049.77 A G PASS 1/1 82 SYNONYMOUS_CODING LOW SILENT 0.99401 0.99400 0.00623 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs73068597
dbSNP
58419180 1083.77 G A PASS 1/1 44 None None None 0.24661 0.24660 None None None None None None None

ZNF419

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2074067
dbSNP
58003141 236.8 A G PASS 1/1 24 None None None 0.69389 0.69390 None None None None None None None

ZSCAN5C

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs1865102
dbSNP
56719853 659.77 C A PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66594 0.66590 0.63 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2967473
dbSNP
36981218 982.77 G A PASS 1/1 40 None None None 0.74621 0.74620 None None None None None None None

ZSCAN5C

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs1865101
dbSNP
56719822 703.77 G T PASS 1/1 34 SYNONYMOUS_CODING LOW SILENT 0.66613 0.66610 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs34513698
dbSNP
58418818 890.77 G A PASS 1/1 34 None None None 0.24681 0.24680 None None None None None None None

OR1I1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs12975625
dbSNP
15198764 730.77 T C PASS 1/1 31 SYNONYMOUS_CODING LOW SILENT 0.90395 0.90400 0.07720 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs6510085
dbSNP
58002819 760.77 T A PASS 1/1 34 None None None 0.69489 0.69490 0.33923 None None None None None None None

ZSCAN5C

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs4801690
dbSNP
56718585 952.77 A G PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60683 0.60680 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs10419548
dbSNP
56717353 1423.77 A G PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45627 0.45630 0.60 0.00 None None None None None None None

OR1I1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs8108721
dbSNP
15198507 1116.77 T C PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67292 0.67290 0.29302 0.89 0.00 None None None None None None None

ZNF404

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs239942
dbSNP
44377357 1088.77 C T PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99860 0.99860 0.57 0.00 None None None None None None None

OR1I1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs8104843
dbSNP
15198292 1687.77 C G PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67173 0.67170 0.29394 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs8105277
dbSNP
15198263 1584.77 A G PASS 1/1 62 SYNONYMOUS_CODING LOW SILENT 0.99980 0.99980 0.00054 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs111616082
dbSNP
58417899 489.77 G A PASS 1/1 16 None None None 0.24701 0.24700 None None None None None None None
View hp37_1_filt_10x 19 rs3214663,rs398035147
dbSNP
58858231 528.73 GC G PASS 1/1 13 None None None 0.80431 0.80430 None None None None None None None

CCDC105

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs8111625
dbSNP
15133762 1354.77 G C PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85982 0.85980 0.14388 0.94 0.00 None None None None None None None

ZNF283

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2356437
dbSNP
44352665 536.77 T C PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68231 0.68230 0.22580 0.47 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs3746294
dbSNP
15083485 624.77 T C PASS 1/1 27 None None None 0.32428 0.32430 0.28390 None None None None None None None
View hp37_1_filt_10x 19 rs73011399
dbSNP
15079078 472.77 T C PASS 1/1 18 None None None 0.26398 0.26400 0.21077 None None None None None None None
View hp37_1_filt_10x 19 rs3803927
dbSNP
15075266 760.77 T C PASS 1/1 33 None None None 0.20927 0.20930 None None None None None None None

OR7C2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs3044711,rs397816267
dbSNP
15052983 3025.73 T TATC PASS 1/1 50 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.99381 0.99380 0.01166 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs58141718
dbSNP
15038281 1371.77 T C PASS 1/1 51 None None None 0.32029 0.32030 None None None None None None None
View hp37_1_filt_10x 19 rs1811200
dbSNP
15038095 678.77 T C PASS 1/1 24 None None None 0.83467 0.83470 None None None None None None None
View hp37_1_filt_10x 19 rs274174
dbSNP
56693643 428.77 T C PASS 1/1 20 None None None 0.99820 0.99820 0.00015 None None None None None None None

ZNF283

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs957569
dbSNP
44351836 489.77 G A PASS 1/1 24 SYNONYMOUS_CODING LOW SILENT 0.68231 0.68230 0.21024 None None None None None None None
View hp37_1_filt_10x 19 rs2195980
dbSNP
44351694 721.77 C T PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80292 0.80290 0.11235 0.19 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs36614
dbSNP
54705619 518.77 A G PASS 1/1 19 None None None 0.93371 0.93370 None None None None None None None

OR7A17

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs10405136
dbSNP
14992042 482.77 A G PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT 0.56210 0.56210 0.47601 None None None None None None None

ZNF146

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2070132
dbSNP
36727365 779.77 G A PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38698 0.38700 0.37683 0.10 0.02 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs157377
dbSNP
58697290 381.77 C G PASS 1/1 15 None None None 0.80371 0.80370 None None None None None None None
View hp37_1_filt_10x 19 rs274171
dbSNP
56691912 559.77 G C PASS 1/1 18 None None None 0.84685 0.84680 0.19422 None None None None None None None
View hp37_1_filt_10x 19 rs4926171
dbSNP
13899980 225.84 A T PASS 1/1 11 None None None 0.38199 0.38200 None None None None None None None
View hp37_1_filt_10x 19 rs36622
dbSNP
54697602 850.77 G A PASS 1/1 35 None None None 0.00220 0.74820 None None None None None None None

TSEN34

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs7595
dbSNP
54697079 393.77 C T PASS 1/1 17 SYNONYMOUS_CODING LOW SILENT 0.74820 0.74820 0.17314 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs164070
dbSNP
44254972 386.77 C T PASS 1/1 16 None None None 0.93151 0.93150 None None None None None None None
View hp37_1_filt_10x 19 rs16985457
dbSNP
54694334 269.8 G C PASS 1/1 11 None None None 0.12620 0.12620 None None None None None None None
View hp37_1_filt_10x 19 rs254283
dbSNP
54687334 404.77 C G PASS 1/1 17 None None None 0.43011 0.43010 None None None None None None None
View hp37_1_filt_10x 19 rs407049
dbSNP
44131297 596.77 T C PASS 1/1 26 None None None 0.99840 0.99840 0.00761 None None None None None None None
View hp37_1_filt_10x 19 rs2285607
dbSNP
57986184 479.77 G A PASS 1/1 19 None None None 0.67632 0.67630 None None None None None None None

MBOAT7

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs4806721
dbSNP
54677759 460.77 T C PASS 1/1 18 SYNONYMOUS_CODING LOW SILENT 0.99381 0.99380 0.00008 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs16048
dbSNP
13323124 554.77 T G PASS 1/1 20 None None None 0.82029 0.82030 None None None None None None None
View hp37_1_filt_10x 19 rs2304095
dbSNP
13255536 716.77 T C PASS 1/1 31 None None None 0.65755 0.65750 0.36425 None None None None None None None
View hp37_1_filt_10x 19 rs304731
dbSNP
44082945 496.77 T C PASS 1/1 19 None None None 0.82448 0.82450 None None None None None None None

PINLYP

Omim - GeneCards - NCBI
Options Individual Chr
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs12608635
dbSNP
44082791 345.77 T C PASS 1/1 13 SYNONYMOUS_CODING LOW SILENT 0.27157 0.27160 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2682586
dbSNP
44081499 259.8 A G PASS 1/1 11 None None None 0.82468 0.82470 None None None None None None None
View hp37_1_filt_10x 19 rs2682585
dbSNP
44081288 259.78 A G PASS 1/1 12 None None None 0.82428 0.82430 None None None None None None None
View hp37_1_filt_10x 19 rs2293683
dbSNP
13039284 515.77 A G PASS 1/1 20 None None None 0.68131 0.68130 0.36399 None None None None None None None
View hp37_1_filt_10x 19 rs3213245
dbSNP
44079687 305.78 G A PASS 1/1 11 None None None 0.67851 0.67850 0.41148 None None None None None None None

SDHAF1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs7249826
dbSNP
36486445 443.77 G C PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.54 0.00 None None None None None None None

XRCC1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2682557
dbSNP
44047826 358.78 T A PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00008 1.00 0.00 None None None None None None None

KIRREL2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs382789
dbSNP
36355595 244.8 A G PASS 1/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs8736
dbSNP
54677189 329.78 C T PASS 1/1 17 None None None 0.36921 0.36920 None None None None None None None
View hp37_1_filt_10x 19 rs2547354
dbSNP
58601221 817.77 T C PASS 1/1 35 None None None 0.50939 0.50940 0.43103 None None None None None None None
View hp37_1_filt_10x 19 rs653560
dbSNP
54677103 336.77 G C PASS 1/1 11 None None None 0.68830 0.68830 None None None None None None None
View hp37_1_filt_10x 19 rs3810375
dbSNP
43920443 547.77 C G PASS 1/1 21 None None None 0.71206 0.71210 0.31993 None None None None None None None

CD177

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs12981771
dbSNP
43860255 73.28 T G PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92093 0.92090 0.38 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs12980412
dbSNP
43860251 105.03 G A PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92312 0.92310 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs12981714
dbSNP
43860192 68.28 T G PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96126 0.96130 1.00 0.00 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs626283
dbSNP
54677001 370.77 G C PASS 1/1 13 None None None 0.37260 0.37260 None None None None None None None
View hp37_1_filt_10x 19 rs34564463,rs56736453,rs372932354
dbSNP
54676814 783.73 G GC PASS 1/1 22 None None None 0.40256 0.40260 0.41580 None None None None None None None

TMC4

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 19 rs641738
dbSNP
54676763 799.77 C T PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37380 0.37380 0.40689 0.42 0.00 None None None None None None None

ZNF772

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 19 rs2074060
dbSNP
57985566 1010.77 G C PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67692 0.67690 0.37306 0.45 0.00 None None None None None None None

NLRP5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs10409555
dbSNP
56572832 932.77 G A PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35883 0.35880 0.31288 1.00 0.00 None None None None None None None

TMC4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs36656
dbSNP
54664752 404.77 A C PASS 1/1 17 SYNONYMOUS_CODING LOW SILENT 0.43391 0.43390 0.47109 None None None None None None None

PSG4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs11883278
dbSNP
43709656 532.77 C G PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91374 0.91370 0.31 0.04 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs231243
dbSNP
36243813 301.78 G A PASS 1/1 13 None None None 1.00000 1.00000 None None None None None None None
View hp37_1_filt_10x 19 rs231244
dbSNP
36243190 765.77 T C PASS 1/1 30 None None None 0.61621 0.61620 0.42325 None None None None None None None

LIN37

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs170758
dbSNP
36243089 769.77 T C PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None
Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2293688
dbSNP
36237245 997.77 C G PASS 1/1 42 None None None 0.40316 0.40320 1.56 None None None None None None None