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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 rs78643472
dbSNP
37003319 167.77 G A PASS 0/1 24 None None None 0.05431 0.05431 None None None None None None None

FFAR2

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 rs409093
dbSNP
35941248 792.77 T A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04812 0.04812 0.05882 0.92 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 rs2436502
dbSNP
5645444 646.77 G A PASS 0/1 64 None None None 0.05471 0.05471 0.05203 None None None None None None None
View hp37_1_filt_10x 19 . 36029638 221.77 G A PASS 0/1 26 None None None None None None None None None None
View hp37_1_filt_10x 19 rs7249516
dbSNP
36105908 84.77 G A PASS 0/1 12 None None None 0.12440 0.12440 0.09893 None None None None None None None
View hp37_1_filt_10x 19 rs2485256
dbSNP
5694349 360.77 G A PASS 0/1 26 None None None 0.05471 0.05471 0.05214 None None None None None None None
View hp37_1_filt_10x 19 rs2285415
dbSNP
36122441 81.77 G A PASS 0/1 13 None None None 0.72464 0.72460 None None None None None None None
View hp37_1_filt_10x 19 rs4806479
dbSNP
54492905 1156.77 G A PASS 1/1 49 None None None 0.34485 0.34480 None None None None None None None

ZNF417

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 rs17845779
dbSNP
58420152 1645.77 C A PASS 1/1 76 SYNONYMOUS_CODING LOW SILENT 0.27935 0.27940 None None None None None None None

WDR18

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 rs11538683
dbSNP
991129 378.77 G A PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15415 0.15420 0.10215 0.43 0.03 2.33 None None None None None None None

ETV2

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 rs2285419
dbSNP
36134208 229.77 G A PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12220 0.12220 0.08370 0.03 0.75 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 rs61220012
dbSNP
36142296 197.77 G A PASS 0/1 27 None None None 0.11861 0.11860 0.09542 None None None None None None None
View hp37_1_filt_10x 19 rs2285420
dbSNP
36168872 33.77 G A PASS 0/1 12 None None None 0.09125 0.09125 0.08637 None None None None None None None
View hp37_1_filt_10x 19 rs2234371
dbSNP
36206986 181.77 G A PASS 0/1 12 None None None 0.14117 0.14120 0.16216 None None None None None None None
View hp37_1_filt_10x 19 rs61351824
dbSNP
36223111 66.77 C A PASS 0/1 10 None None None 0.03195 0.10300 None None None None None None None
View hp37_1_filt_10x 19 rs4806678
dbSNP
54488289 446.77 C A PASS 1/1 19 None None None 0.69629 0.69630 None None None None None None None
View hp37_1_filt_10x 19 rs2042177
dbSNP
54487380 1011.77 T A PASS 1/1 34 None None None 0.69549 0.69550 None None None None None None None
View hp37_1_filt_10x 19 rs7257802
dbSNP
54486811 378.77 G A PASS 1/1 15 None None None 0.69309 0.69310 None None None None None None None
View hp37_1_filt_10x 19 rs3817622
dbSNP
36237227 294.77 T A PASS 0/1 39 None None None 0.09924 0.09924 None None None None None None None
View hp37_1_filt_10x 19 rs11324363,rs398035048
dbSNP
54445594 452.73 AG A PASS 0/1 31 None None None 0.00599 0.87520 None None None None None None None
View hp37_1_filt_10x 19 rs182437390
dbSNP
55377814 36.77 G A PASS 0/1 25 None None None 0.00040 0.00040 0.00162 2.46 None None None None None None None
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

ARHGAP33

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 rs35297478
dbSNP
36273308 166.77 G A PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.11961 0.11960 0.08881 None None None None None None None

DUS3L

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 . 5787693 489.77 G A PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT 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 rs4539722
dbSNP
54327440 79.77 G A PASS 0/1 12 None None None 0.42113 0.42110 0.44841 None None None None None None None
View hp37_1_filt_10x 19 rs6509827
dbSNP
54314585 243.8 G A PASS 1/1 10 None None None 0.93111 0.93110 0.03388 None None None None None None None

NRTN

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 rs79744308
dbSNP
5827765 121.77 G A PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08546 0.08546 0.03771 0.46 0.98 None None None None None None None

ARHGAP33

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 rs2291067
dbSNP
36273534 128.77 G A PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.18411 0.18410 0.16546 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 rs731934
dbSNP
36321910 253.77 G A PASS 0/1 23 None None None 0.36681 0.36680 0.28879 None None None None None None None
View hp37_1_filt_10x 19 rs373869955
dbSNP
55377465 70.77 C A PASS 0/1 14 None None None None None None None None None None
View hp37_1_filt_10x 19 rs466452
dbSNP
36322509 240.77 G A PASS 0/1 12 None None None 0.39058 0.39060 0.39451 None None None None None None None
View hp37_1_filt_10x 19 rs117954932
dbSNP
54275825 176.77 G A PASS 0/1 15 None None None 0.01777 0.01777 None None None None None None None
View hp37_1_filt_10x 19 . 36389493 180.77 T A PASS 0/1 13 None None None None None None None None None None
View hp37_1_filt_10x 19 rs8101958
dbSNP
54275675 1517.77 C A PASS 1/1 65 None None None 0.82788 0.82790 None None None None None None None

THAP8

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 rs34250145
dbSNP
36530428 433.77 G A PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08906 0.08906 0.07646 0.29 0.01 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 rs78943646
dbSNP
36558948 108.77 T A PASS 0/1 21 None None None 0.08926 0.08926 0.07775 None None None None None None None
View hp37_1_filt_10x 19 rs73928392
dbSNP
36592287 278.77 G A PASS 0/1 19 None None None 0.00260 0.00260 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
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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 rs611370
dbSNP
54257191 502.77 C A PASS 1/1 19 None None None 0.80551 0.80550 3.12 None None None None None None None
View hp37_1_filt_10x 19 rs10426014
dbSNP
36912860 167.77 G A PASS 0/1 13 None None None 0.61122 0.61120 None None None None None None None
View hp37_1_filt_10x 19 rs17206393
dbSNP
36938594 291.77 T A PASS 0/1 36 None None None 0.21006 0.21010 None None None None None None None
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

FUT6

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 rs778805
dbSNP
5832209 1340.77 G A PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49521 0.49520 0.41988 0.02 0.79 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 rs73600866
dbSNP
54230337 345.77 T A PASS 0/1 49 None None None 0.13399 0.13400 None None None None None None None

NDUFA11

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 rs12980262
dbSNP
5893058 374.77 G A PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02975 0.02975 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 rs4801998
dbSNP
54219769 155.77 G A PASS 0/1 12 None None None 0.46785 0.46790 None None None None None None None

ZNF850

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 rs11672680
dbSNP
37239278 431.77 C A PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.24701 0.24700 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 rs7251827
dbSNP
54209679 70.77 T A PASS 0/1 11 None None None 0.19389 0.19390 None None None None None None None
View hp37_1_filt_10x 19 rs1667382
dbSNP
37416022 277.78 C A PASS 1/1 10 None None None 0.51118 0.51120 None None None None None None None

RYR1

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 rs2228069
dbSNP
38956803 317.77 G A PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.54553 0.54550 0.40291 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 rs10414727
dbSNP
54205961 33.77 T A PASS 0/1 17 None None None 0.42512 0.42510 0.39573 None None None None None None None
View hp37_1_filt_10x 19 rs184108639
dbSNP
55377428 157.77 G A PASS 0/1 21 None None None None None None None None None None
View hp37_1_filt_10x 19 . 38994845 39.77 C A PASS 0/1 12 None None None None None None None None None None
View hp37_1_filt_10x 19 rs2278011
dbSNP
39334811 304.78 T A PASS 1/1 12 None None None 0.57388 0.57390 None None None None None None None
View hp37_1_filt_10x 19 rs775850447
dbSNP
55377400 214.77 G A PASS 0/1 32 None None None None None None None None None None
View hp37_1_filt_10x 19 rs862454
dbSNP
39338125 791.77 G A PASS 1/1 32 None None None 0.35423 0.35420 0.43641 None None None None None None None
View hp37_1_filt_10x 19 rs274795
dbSNP
5921352 430.77 G A PASS 0/1 33 None None None 0.03954 0.03954 0.07375 None None None None None None None
View hp37_1_filt_10x 19 rs372713104
dbSNP
39372182 206.77 G A PASS 0/1 18 None None None 0.00020 0.00020 0.00015 None None None None None None None
View hp37_1_filt_10x 19 rs2060230
dbSNP
54188219 1188.77 G A PASS 1/1 50 None None None 0.87899 0.87900 0.09126 None None None None None None None
View hp37_1_filt_10x 19 rs560364
dbSNP
39589334 531.77 G A PASS 1/1 22 None None None 0.79972 0.79970 0.16923 None None None None None None None

PAPL

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 rs8110736
dbSNP
39590955 264.77 G A PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.63119 0.63120 0.35714 None None None None None None None

PLEKHG2

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 rs31726
dbSNP
39914748 584.77 G A PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57588 0.57590 0.47740 0.09 0.01 None None None None None None None
View hp37_1_filt_10x 19 rs31727
dbSNP
39915637 175.77 G A PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.59685 0.59680 0.44194 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 rs1932
dbSNP
39936502 288.77 G A PASS 0/1 37 None None None 0.63658 0.63660 0.40112 None None None None None None None

SUPT5H

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 rs2304217
dbSNP
39955533 239.77 G A PASS 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.13718 0.13720 0.16738 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 rs8113213
dbSNP
54007145 313.78 G A PASS 1/1 17 None None None None None None None None None None
View hp37_1_filt_10x 19 rs79553880
dbSNP
39963621 362.77 C A PASS 0/1 29 None None None 0.03974 0.03974 0.02607 None None None None None None None

TPGS1

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 rs112370786
dbSNP
519336 107.77 G A PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.16034 0.16030 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 rs36054499,rs57756869
dbSNP
53996691 684.73 ATTTC A PASS 0/1 52 None None None 0.49501 0.49500 None None None None None None None
View hp37_1_filt_10x 19 rs3764843
dbSNP
40093111 154.77 C A PASS 0/1 15 None None None 0.75160 0.75160 None None None None None None None

LGALS16

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 rs1860134
dbSNP
40149297 473.77 T A PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.39 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 rs11669978
dbSNP
53995558 622.77 C A PASS 0/1 47 None None None 0.18331 0.18330 None None None None None None None

ZNF813

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 rs2708845
dbSNP
53995004 596.77 G A PASS 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.78295 0.78290 0.21214 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 rs8103033
dbSNP
40170053 75.77 G A PASS 0/1 13 None None None 0.25359 0.25360 0.27026 None None None None None None None
View hp37_1_filt_10x 19 rs562981575
dbSNP
40172248 223.77 G A PASS 0/1 14 None None None 0.00200 0.00200 None None None None None None None
View hp37_1_filt_10x 19 rs7258833
dbSNP
40174236 670.77 G A PASS 0/1 63 None None None 0.63878 0.63880 0.28866 None None None None None None None
View hp37_1_filt_10x 19 rs391646
dbSNP
40224869 156.77 T A PASS 0/1 21 None None None 0.60923 0.60920 None None None None None None None

ZNF813

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 rs12974996,rs77810160
dbSNP
53990002 154.77 G A PASS 0/1 53 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View hp37_1_filt_10x 19 rs74708552,rs34008652
dbSNP
53989945 200.77 G A PASS 0/1 49 SYNONYMOUS_CODING LOW SILENT None None None None None None None
Omim - GeneCards - NCBI
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RsId
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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 rs453827
dbSNP
40224901 294.77 G A PASS 0/1 27 None None None 0.60923 0.60920 0.30140 None None None None None None None
View hp37_1_filt_10x 19 rs687320,rs45578334
dbSNP
6073382 134.77 G A PASS 0/1 21 None None None 0.17991 0.17990 None None None None None None None

CLC

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 rs17608
dbSNP
40225646 173.77 G A PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61362 0.61360 0.29779 0.68 0.00 None None None None None None None
Omim - GeneCards - NCBI
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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 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
View hp37_1_filt_10x 19 rs112492507
dbSNP
6151648 221.77 G A PASS 0/1 19 None None None 0.01837 0.01837 None None None None None None None
View hp37_1_filt_10x 19 rs2708742
dbSNP
53959343 426.77 G A PASS 0/1 76 None None None 0.36342 0.36340 0.38367 None None None None None None None
View hp37_1_filt_10x 19 rs56110449
dbSNP
40318087 522.77 G A PASS 0/1 48 None None None 0.22923 0.22920 0.00038 None None None None None None None
View hp37_1_filt_10x 19 rs1984432
dbSNP
53958263 989.77 G A PASS 0/1 91 None None None 0.74481 0.74480 0.23082 None None None None None None None
View hp37_1_filt_10x 19 rs2302523
dbSNP
40354576 102.77 C A PASS 0/1 10 None None None 0.25280 0.25280 0.21531 None None None None None None None
View hp37_1_filt_10x 19 rs7252394
dbSNP
44503569 260.8 G A PASS 1/1 10 None None None 0.43251 0.43250 None None None None None None None

GFY

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 rs4801798
dbSNP
49930786 156.77 C A PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16933 0.16930 0.00 0.96 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 rs76844851
dbSNP
49965131 343.78 G A PASS 1/1 14 None None None 0.00300 0.30790 0.28909 None None None None None None None

ZNF765

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 rs36087592
dbSNP
53926318 57.77 T A PASS 0/1 27 None None None 0.42173 0.42170 None None None None None None None

ALDH16A1

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 rs2293009
dbSNP
49967680 673.77 G A PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31150 0.31150 0.32921 None None None None None None None

KIR3DL2

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 . 55377319 272.77 C A PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 rs59192944
dbSNP
49994470 138.77 T A PASS 0/1 23 None None None 0.26338 0.26340 0.24677 None None None None None None None

PRR12

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 rs12462756
dbSNP
50098423 451.77 G A PASS 1/1 23 SYNONYMOUS_CODING LOW SILENT 0.29812 0.29810 0.22955 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 rs2116922
dbSNP
50103252 677.77 G A PASS 1/1 27 None None None 0.38439 0.38440 None None None None None None None
View hp37_1_filt_10x 19 rs8111082
dbSNP
53915093 2886.77 G A PASS 1/1 121 None None None 0.77197 0.77200 None None None None None None None

KIR3DL2

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 rs2915986
dbSNP
55377307 226.77 T A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 rs7253508
dbSNP
53914425 605.77 C A PASS 1/1 23 None None None 0.77157 0.77160 None None None None None None None