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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 rs796905787
dbSNP
107381 35.74 T C PASS 1/1 35 None None None None None None None None None None

PPAP2C

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 rs1138439
dbSNP
282753 358.78 G A PASS 1/1 19 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.36462 0.36460 0.44387 0.31 0.04 1.03 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 rs10416918
dbSNP
312143 257.8 T C PASS 1/1 13 None None None 0.99301 0.99300 None None None None None None None
View hp37_1_filt_10x 19 rs4897949
dbSNP
326481 271.77 G A PASS 0/1 25 None None None 0.28514 0.28510 0.19399 None None None None None None None
View hp37_1_filt_10x 19 rs652081
dbSNP
372551 221.8 A G PASS 1/1 10 None None None 0.93950 0.93950 None None None None None None None
View hp37_1_filt_10x 19 rs2303815
dbSNP
374016 374.77 G A PASS 0/1 32 None None None 0.12840 0.12840 0.17310 None None None None None None None

THEG

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 rs3815960
dbSNP
374453 512.77 T C PASS 0/1 39 None None None 0.39956 0.39960 0.30411 0.11 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 rs35242441
dbSNP
374704 433.77 C T PASS 1/1 19 None None None 0.25200 0.25200 None None None None None None None

SHC2

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 rs2287960
dbSNP
422238 845.77 G T PASS 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.13439 0.13440 0.02891 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 rs2066959
dbSNP
436690 237.77 C T PASS 0/1 24 None None None 0.10184 0.10180 0.01958 None None None None None None None

ODF3L2

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 rs34551779
dbSNP
464310 229.84 A G PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43690 0.43690 0.35790 0.31 0.02 -1.85 None None None None None None None

MADCAM1

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 rs7246543
dbSNP
504830 462.77 C G PASS 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.00260 0.31310 0.32670 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 rs117112129
dbSNP
518957 233.77 C A PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05591 0.05591 0.03615 0.14 0.98 3.59 None None None None None None None
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

CDC34

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 rs6507
dbSNP
532066 518.77 C T PASS 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.10304 0.10300 0.07099 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 rs112805632
dbSNP
536113 36.77 C T PASS 0/1 10 None None None 0.00699 0.00699 None None None None None None None
View hp37_1_filt_10x 19 rs892209
dbSNP
544140 116.77 G A PASS 0/1 13 None None None 0.16274 0.16270 0.18636 None None None None None None None
View hp37_1_filt_10x 19 rs4919846
dbSNP
547224 223.84 A G PASS 1/1 12 None None None 0.99860 0.99860 None None None None None None None

GZMM

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 rs59539774
dbSNP
549667 256.77 G A PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04193 0.04193 0.02207 0.65 0.00 -0.22 None None None None None None None
View hp37_1_filt_10x 19 rs1599882
dbSNP
549678 533.77 A G PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99720 0.99720 0.00715 1.00 0.00 -0.92 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 rs7253615
dbSNP
579010 95.77 G A PASS 0/1 13 None None None 0.71046 0.71050 None None None None None None None
View hp37_1_filt_10x 19 rs2283572
dbSNP
579035 227.77 C T PASS 0/1 20 None None None 0.32648 0.32650 None None None None None None None
View hp37_1_filt_10x 19 rs2108832
dbSNP
580268 79.77 G C PASS 0/1 32 None None None 0.32668 0.32670 None None None None None None None
View hp37_1_filt_10x 19 rs11879069
dbSNP
580333 99.77 G A PASS 0/1 38 None None None 0.32648 0.32650 0.24100 None None None None None None None

BSG

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 rs4682
dbSNP
580665 358.77 T C PASS 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.32648 0.32650 0.24104 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 rs10416339
dbSNP
580793 308.77 A C PASS 0/1 37 None None None 0.00100 0.51940 0.42739 None None None None None None None
View hp37_1_filt_10x 19 rs10422916
dbSNP
580810 48.77 T C PASS 0/1 20 None None None 0.75160 0.75160 0.39658 None None None None None None None
View hp37_1_filt_10x 19 rs4919862
dbSNP
582253 357.78 T C PASS 1/1 18 None None None 0.85703 0.85700 0.19074 None None None None None None None
View hp37_1_filt_10x 19 rs2074962
dbSNP
582468 122.77 A G PASS 0/1 14 None None None 0.71645 0.71650 0.42722 None None None None None None None
View hp37_1_filt_10x 19 rs2072309
dbSNP
582505 171.77 G A PASS 0/1 11 None None None 0.31530 0.31530 0.23621 None None None None None None None
View hp37_1_filt_10x 19 rs8637
dbSNP
582775 222.77 A G PASS 0/1 15 None None None 0.75659 0.75660 None None None None None None None
View hp37_1_filt_10x 19 rs8259
dbSNP
582927 420.77 T A PASS 0/1 37 None None None 0.52157 0.52160 None None None None None None None

HCN2

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 rs56279131
dbSNP
605090 169.78 C T PASS 0/1 11 SYNONYMOUS_CODING LOW SILENT 0.00579 0.00579 0.01677 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 rs41546612
dbSNP
617963 171.77 T G PASS 0/1 13 None None None 0.21985 0.21980 None None None None None None None
View hp37_1_filt_10x 19 rs10853990
dbSNP
619574 118.77 T G PASS 0/1 12 None None None 0.57927 0.57930 0.48692 None None None None None None None

POLRMT

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 rs2238547
dbSNP
621712 102.77 A G PASS 0/1 11 SYNONYMOUS_CODING LOW SILENT 0.62001 0.62000 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 rs2017580
dbSNP
623003 397.77 G A PASS 0/1 25 None None None 0.08986 0.08986 0.12648 None None None None None None None
View hp37_1_filt_10x 19 rs41563114,rs398048311
dbSNP
623080 334.73 A AT PASS 0/1 11 None None None 0.20108 0.20110 None None None None None None None

POLRMT

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 rs1056766,rs61729793
dbSNP
625198 403.77 A G PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.39780 None None None None None None None
View hp37_1_filt_10x 19 rs11669858
dbSNP
633381 141.77 A G PASS 0/1 19 None None None 0.65316 0.65320 0.41630 None None None None None None None

FGF22

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 rs7246140
dbSNP
641215 71.77 T C PASS 0/1 15 None None None 0.41194 0.41190 0.00 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 rs10403235
dbSNP
646891 174.77 G A PASS 0/1 21 None None None 0.42133 0.42130 0.35491 None None None None None None None
View hp37_1_filt_10x 19 rs7249518
dbSNP
646900 233.77 A G PASS 0/1 22 None None None 0.56070 0.56070 0.39961 None None None None None None None

RNF126

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 rs61754469
dbSNP
651684 124.77 C T PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00679 0.00679 0.01401 0.08 0.09 3.81 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 rs8102953
dbSNP
652206 295.78 G A PASS 1/1 12 None None None 0.98622 0.98620 0.02722 None None None None None None None
View hp37_1_filt_10x 19 rs12973146
dbSNP
652739 349.78 C G PASS 1/1 16 None None None 0.66973 0.66970 None None None None None None None
View hp37_1_filt_10x 19 rs10153505
dbSNP
652948 370.77 T G PASS 0/1 21 None None None 0.94349 0.94350 0.11635 None None None None None None None

PRSS57

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 rs8102982
dbSNP
687142 443.77 G A PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99720 0.99720 0.00624 1.00 0.00 -0.01 None None None None None None None
View hp37_1_filt_10x 19 rs4375794
dbSNP
691909 778.77 T C PASS 1/1 36 SYNONYMOUS_CODING LOW SILENT 0.67772 0.67770 0.24573 None None None None None None None

MED16

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 rs147510499
dbSNP
868108 38.77 C G PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00399 0.00399 0.00763 0.03 0.00 0.56 None None None None None None None
View hp37_1_filt_10x 19 rs13090
dbSNP
868115 219.84 C T PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23982 0.23980 0.31978 0.06 0.29 0.90 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 rs1631848
dbSNP
868551 367.77 T C PASS 1/1 15 None None None 0.29293 0.29290 0.38167 None None None None None None None

MED16

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 rs1683569
dbSNP
871135 309.78 A G PASS 1/1 12 SYNONYMOUS_CODING LOW SILENT 0.26478 0.26480 0.28575 None None None None None None None
View hp37_1_filt_10x 19 rs78047294
dbSNP
871987 667.77 G A PASS 1/1 28 SYNONYMOUS_CODING LOW SILENT 0.17312 0.17310 0.24519 None None None None None None None
View hp37_1_filt_10x 19 rs111940149
dbSNP
875380 93.77 G A PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT 0.00439 0.00439 0.00815 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 rs2965294
dbSNP
884782 322.78 C G PASS 1/1 10 None None None 0.55591 0.55590 None None None None None None None

MED16

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 rs1060442
dbSNP
885818 693.77 A G PASS 1/1 28 SYNONYMOUS_CODING LOW SILENT 0.62121 0.62120 0.38175 None None None None None None None
View hp37_1_filt_10x 19 rs6678
dbSNP
890165 416.77 G A PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT 0.17792 0.17790 0.24220 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 rs3746149
dbSNP
897571 176.77 G C PASS 0/1 21 None None None 0.32408 0.32410 0.37028 None None None None None None None
View hp37_1_filt_10x 19 rs2930885
dbSNP
899567 673.77 C G PASS 1/1 24 None None None 0.35004 0.35000 0.33262 None None None None None None None
View hp37_1_filt_10x 19 rs4343405
dbSNP
901955 1397.77 C T PASS 1/1 61 None None None 0.17153 0.17150 0.26903 None None None None None None None
View hp37_1_filt_10x 19 rs1637993
dbSNP
960187 263.8 G C PASS 1/1 10 None None None 0.93251 0.93250 0.05398 None None None None None None None

ARID3A

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 rs12608658
dbSNP
965043 270.78 T C PASS 1/1 13 SYNONYMOUS_CODING LOW SILENT 0.93890 0.93890 0.05167 None None None None None None None
View hp37_1_filt_10x 19 rs6510986
dbSNP
966693 623.77 C T PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT 0.71486 0.71490 0.18296 None None None None None None None
View hp37_1_filt_10x 19 rs1051504
dbSNP
971933 115.77 A G PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT 0.59485 0.59480 0.27105 None None None None None None None
View hp37_1_filt_10x 19 rs1051505
dbSNP
971949 240.84 G A PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02935 0.71870 0.17055 0.34 0.00 -0.03 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 rs2074573
dbSNP
985815 86.77 T G PASS 0/1 18 None None None 0.39956 0.39960 0.49923 None None None None None None None
View hp37_1_filt_10x 19 rs2074574
dbSNP
985997 677.77 C G PASS 1/1 27 None None None 0.55771 0.55770 0.35484 None None None None None None None
View hp37_1_filt_10x 19 rs2240147
dbSNP
989730 267.77 C A PASS 0/1 29 None None None 0.09265 0.09265 0.08176 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 rs2158367
dbSNP
990281 360.77 G A PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89038 0.89040 0.04511 0.59 0.00 2.62 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 rs2240149
dbSNP
990819 98.77 G A PASS 0/1 13 None None None 0.38019 0.38020 0.47475 None None None None None None None
View hp37_1_filt_10x 19 rs2240150
dbSNP
991063 606.77 A C PASS 0/1 50 None None None 0.15415 0.15420 0.10499 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
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 rs138855476
dbSNP
991196 1943.73 CG... C PASS 1/1 23 None None None None None None None None None None
View hp37_1_filt_10x 19 rs372784718
dbSNP
991204 612.77 G C PASS 1/1 21 None None None 0.04812 0.04812 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 rs1127043
dbSNP
991968 155.77 T C PASS 0/1 11 SYNONYMOUS_CODING LOW SILENT 0.39437 0.39440 0.34588 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 rs112743753
dbSNP
1000420 72.77 A G PASS 0/1 20 None None None 0.32528 0.32530 0.30090 None None None None None None None
View hp37_1_filt_10x 19 rs2240155
dbSNP
1003808 87.77 A G PASS 0/1 11 None None None 0.34844 0.34840 None None None None None None None

GRIN3B

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 rs4807399
dbSNP
1004710 833.77 C T PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36162 0.36160 0.47886 0.07 0.02 None None None None None None None
View hp37_1_filt_10x 19 rs11880849
dbSNP
1004724 423.77 A G PASS 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.26637 0.26640 0.35414 None None None None None None None
View hp37_1_filt_10x 19 rs2240157
dbSNP
1004740 917.77 T C PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68151 0.68150 0.26319 0.47 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs4806908
dbSNP
1004823 445.77 G A PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.25899 0.25900 0.34254 None None None None None None None
View hp37_1_filt_10x 19 rs4806909
dbSNP
1004844 463.77 T C PASS 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.32049 0.32050 0.39645 None None None None None None None
View hp37_1_filt_10x 19 rs10666583
dbSNP
1004896 1361.73 G GCGTT PASS 0/1 52 FRAME_SHIFT HIGH 0.15915 0.15910 0.23947 None None None None None None None
View hp37_1_filt_10x 19 rs2240158
dbSNP
1005230 799.77 C T PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.34545 0.34540 0.42688 1.00 0.01 None None None None None None None
View hp37_1_filt_10x 19 rs12973948
dbSNP
1005531 177.77 G C PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.23463 0.23460 0.30186 None None None None None None None
View hp37_1_filt_10x 19 rs10401454
dbSNP
1009585 154.77 C G PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25539 0.25540 0.22612 0.87 0.88 -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 rs2240160
dbSNP
1011215 300.77 G A PASS 0/1 28 None None None 0.27576 0.27580 0.20985 None None None None None None None
View hp37_1_filt_10x 19 rs2240161
dbSNP
1011823 279.77 A G PASS 0/1 32 None None None 0.67432 0.67430 0.28468 None None None None None None None

TMEM259

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 rs7145
dbSNP
1012120 324.77 G A PASS 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.13938 0.13940 0.13368 None None None None None None None
View hp37_1_filt_10x 19 rs11672715
dbSNP
1012440 70.77 A C PASS 0/1 10 None None None 0.19149 0.19150 0.16367 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 rs970100
dbSNP
1012611 73.77 A C PASS 0/1 16 None None None 0.55272 0.55270 0.39009 None None None None None None None
View hp37_1_filt_10x 19 rs62131163
dbSNP
1012639 111.77 A G PASS 0/1 14 None None None 0.10523 0.10520 None None None None None None None
View hp37_1_filt_10x 19 rs3815170
dbSNP
1013148 191.84 G A PASS 0/1 10 None None None 0.17113 0.17110 None None None None None None None

TMEM259

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 rs1058506
dbSNP
1014377 221.77 A G PASS 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.19070 0.19070 0.18143 None None None None None None None
View hp37_1_filt_10x 19 rs7146
dbSNP
1014398 223.77 A G PASS 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.67512 0.67510 0.29037 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 rs7247087
dbSNP
1031212 259.77 A G PASS 0/1 21 None None None 0.81290 0.81290 0.22485 None None None None None None None

CNN2

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 rs2304262
dbSNP
1036552 274.77 T C PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.83207 0.83210 0.16323 None None None None None None None

ABCA7

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 rs3764645
dbSNP
1042809 311.77 A G PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39956 0.39960 0.38867 0.48 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs3752237
dbSNP
1047161 364.77 A G PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.69529 0.69530 0.37591 None None None None None None None