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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

Export to: CSV

A1BG

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 rs893184
dbSNP
58864479 639.77 T C PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84844 0.84840 0.10849 0.91 0.00 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 rs881768
dbSNP
1056065 324.78 A G PASS 1/1 10 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.44209 0.44210 0.45937 None None None None None None None
View hp37_1_filt_10x 19 rs3752246
dbSNP
1056492 712.77 G C PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82548 0.82550 0.12788 1.00 0.00 1.98 None None None None None None None
View hp37_1_filt_10x 19 rs78320196
dbSNP
1061804 185.77 T C PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.05970 0.05970 0.03914 None None None None None None None
View hp37_1_filt_10x 19 rs3764652
dbSNP
1052005 374.77 C T PASS 1/1 17 SYNONYMOUS_CODING LOW SILENT 0.37939 0.37940 0.40154 3.32 None None None None None None None
View hp37_1_filt_10x 19 rs3752243
dbSNP
1054060 1031.77 A G PASS 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.53614 0.53610 0.47355 None None None None None None None
View hp37_1_filt_10x 19 rs4147934
dbSNP
1065018 120.77 G T PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60503 0.60500 0.25026 0.88 0.10 None None None None None None None
View hp37_1_filt_10x 19 rs4147930
dbSNP
1064193 147.77 G A PASS 0/1 13 SYNONYMOUS_CODING LOW SILENT 0.60643 0.60640 0.29566 None None None None None None None
View hp37_1_filt_10x 19 rs3745842
dbSNP
1055191 655.77 G A PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39058 0.39060 0.40647 0.54 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
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

ABHD17A

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 rs4807160
dbSNP
1880950 104.77 T C PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63099 0.63100 0.36662 1.00 0.00 -1.80 None None None None None None None

ABHD8

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 rs11086066
dbSNP
17412366 72.77 G A PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT 0.23702 0.23700 0.24633 None None None None None None None
View hp37_1_filt_10x 19 rs3745186
dbSNP
17412218 329.77 C T PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13119 0.13120 0.12092 0.18 0.01 None None None None None None None

AC006486.1

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 rs376703185
dbSNP
42747257 245.77 G A PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.00459 0.00459 None None None None None None None

AC012313.1

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 rs13343526
dbSNP
58908150 286.78 C G PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85503 0.85500 1.00 0.00 None None None None None None None

AC018755.1

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 rs58301181
dbSNP
52097261 365.77 C G PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09265 0.09265 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs141848717
dbSNP
52097560 973.73 G GA PASS 0/1 101 FRAME_SHIFT HIGH 0.08746 0.08746 None None None None None None None

AC020907.1

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 rs2445826
dbSNP
35597352 317.78 T C PASS 1/1 12 SYNONYMOUS_CODING LOW SILENT 0.99101 0.99100 None None None None None None None

AC020922.1

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 rs10405231
dbSNP
55856211 1093.77 C T PASS 1/1 42 SYNONYMOUS_CODING LOW SILENT 0.49241 0.49240 0.40018 None None None None None None None

AC074212.3

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 rs8112282
dbSNP
46265029 222.77 C T PASS 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.53674 0.53670 None None None None None None None
View hp37_1_filt_10x 19 rs12982642
dbSNP
46264963 463.77 C T PASS 0/1 43 SYNONYMOUS_CODING LOW SILENT 0.03215 0.03215 None None None None None None None
View hp37_1_filt_10x 19 rs725660
dbSNP
46262286 547.77 C A PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29253 0.29250 0.01 0.99 None None None None None None None

ACSBG2

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 rs35521854
dbSNP
6190599 457.77 A G PASS 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.03474 0.03474 0.03883 None None None None None None None
View hp37_1_filt_10x 19 rs17851957
dbSNP
6183233 60.77 G A PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.09585 0.09585 0.08488 None None None None None None None
View hp37_1_filt_10x 19 rs16993453
dbSNP
6187657 616.77 C T PASS 0/1 53 SYNONYMOUS_CODING LOW SILENT 0.09485 0.09485 0.08465 None None None None None None None
View hp37_1_filt_10x 19 rs17856650
dbSNP
6187800 579.77 G A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09405 0.09405 0.08458 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs17856651
dbSNP
6187805 597.77 G C PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09405 0.09405 0.08465 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs4807840
dbSNP
6156483 478.77 T C PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71206 0.71210 0.29994 1.00 0.00 None None None None None None None

ACTL9

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 rs10410943
dbSNP
8808900 460.77 A G PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79173 0.79170 0.27926 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs2340550
dbSNP
8808942 666.77 A G PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79173 0.79170 0.28447 0.56 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs4804079
dbSNP
8808373 635.77 G T PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60004 0.60000 0.47201 0.51 1.00 None None None None None None None

ACTN4

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 rs3745859
dbSNP
39196745 349.77 C T PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.33926 0.33930 0.39236 None None None None None None None

ADAMTS10

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 rs7255721
dbSNP
8669931 630.77 G C PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89397 0.89400 0.21830 1.00 0.00 None None None None None None None

ADCK4

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 rs3865452
dbSNP
41211056 445.77 T C PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47744 0.47740 0.45248 0.53 0.00 None None None None None None None

ADM5

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 rs201107314
dbSNP
50193163 346.77 A G PASS 0/1 28 SYNONYMOUS_CODING LOW SILENT 0.01018 0.01018 0.00749 None None None None None None None

AES

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 rs11539938
dbSNP
3062857 121.77 T C PASS 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.38538 0.38540 0.35080 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

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 rs1320303
dbSNP
49964977 765.77 C G PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51018 0.51020 0.34881 1.00 0.01 None None None None None None None
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

AMH

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 rs10417628
dbSNP
2251817 299.77 T C PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99002 0.99000 0.01798 0.77 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs10407022
dbSNP
2249477 221.77 G T PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67592 0.67590 0.26055 0.00 0.07 None None None None None None None

ANGPTL4

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 rs1044250
dbSNP
8436164 316.77 C T PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23962 0.23960 0.29140 0.27 0.04 None None None None None None None

ANKLE1

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 rs8100241
dbSNP
17392894 125.77 G A PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42732 0.42730 0.43512 0.01 1.00 None None None None None None None
View hp37_1_filt_10x 19 rs891017
dbSNP
17394504 230.77 A C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63538 0.63540 0.19952 0.48 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs11086065
dbSNP
17395003 198.77 A G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63518 0.63520 0.19914 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs11882562
dbSNP
17395055 137.77 C G PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.19922 None None None None None None None
View hp37_1_filt_10x 19 rs751599
dbSNP
17396549 227.77 T C PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.19937 None None None None None None None
View hp37_1_filt_10x 19 rs2363956
dbSNP
17394124 462.77 T G PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46066 0.46070 0.48747 0.03 1.00 None None None None None None None
View hp37_1_filt_10x 19 rs8108174
dbSNP
17393530 170.78 T A PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46066 0.46070 0.43206 0.01 0.99 None None None None None None None

ANKRD24

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 rs12978469
dbSNP
4210356 126.77 G A PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61282 0.61280 0.37995 0.11 0.60 None None None None None None None
View hp37_1_filt_10x 19 rs374562535
dbSNP
4210331 83.77 C T PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00260 0.00260 0.00 0.88 None None None None None None None
View hp37_1_filt_10x 19 rs353693
dbSNP
4217207 554.77 T G PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97504 0.97500 0.05681 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 . 4222730 168.77 C T PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46 0.18 None None None None None None None

ANKRD27

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 rs45538631
dbSNP
33095313 191.77 G A PASS 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.00459 0.00459 0.00446 None None None None None None None
View hp37_1_filt_10x 19 rs405858
dbSNP
33106621 790.77 C T PASS 1/1 32 SYNONYMOUS_CODING LOW SILENT 0.48083 0.48080 0.38974 None None None None None None None
View hp37_1_filt_10x 19 rs2287669
dbSNP
33110204 349.77 T C PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46026 0.46030 0.44710 0.22 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs6510271
dbSNP
33117666 256.8 T C PASS 1/1 10 SYNONYMOUS_CODING LOW SILENT 0.65196 0.65200 0.34084 None None None None None None None
View hp37_1_filt_10x 19 rs2302970
dbSNP
33098632 364.77 G C PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26518 0.26520 0.41619 0.79 0.94 None None None None None None None

ANO8

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 rs56286266
dbSNP
17435887 230.77 C T PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.24621 0.24620 0.27157 None None None None None None None
View hp37_1_filt_10x 19 rs3745191
dbSNP
17439034 255.77 C T PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.10443 0.10440 0.09297 None None None None None None None
View hp37_1_filt_10x 19 rs8102944
dbSNP
17438642 1026.77 A G PASS 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.62181 0.62180 0.24289 None None None None None None None
View hp37_1_filt_10x 19 rs755123
dbSNP
17435884 947.77 T C PASS 1/1 41 SYNONYMOUS_CODING LOW SILENT 0.61881 0.61880 0.24758 None None None None None None None

AP1M1

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 rs3752797
dbSNP
16339715 646.77 C T PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.45208 0.45210 0.44187 None None None None None None None

AP1M2

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 rs1045361
dbSNP
10692000 93.77 T C PASS 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.37260 0.37260 0.20816 None None None None None None None

AP3D1

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 rs25672
dbSNP
2138654 785.77 T G PASS 1/1 33 SYNONYMOUS_CODING LOW SILENT 0.23642 0.23640 0.33769 None None None None None None None

APBA3

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 rs34868972
dbSNP
3753874 696.77 G A PASS 0/1 69 SYNONYMOUS_CODING LOW SILENT 0.09185 0.09185 0.11926 None None None None None None None
View hp37_1_filt_10x 19 rs8102086
dbSNP
3752874 1065.77 A G PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04153 0.04153 0.49646 0.23 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs3746120
dbSNP
3753769 369.77 C T PASS 0/1 64 SYNONYMOUS_CODING LOW SILENT 0.34006 0.34010 0.32226 None None None None None None None

APOC4

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 rs5167
dbSNP
45448465 401.77 T G PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43930 0.43930 0.39236 1.00 0.00 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 rs231235
dbSNP
36278470 231.8 C G PASS 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.53474 0.53470 0.44447 None None None None None None None
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
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
View hp37_1_filt_10x 19 rs231228
dbSNP
36268771 338.77 C T PASS 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.28954 0.28950 0.25181 None None None None None None None

ARHGEF1

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 rs530059967
dbSNP
42427249 87.77 C T PASS 0/1 16 None None None 0.00220 0.00220 None None None None None None None

ARHGEF18

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 rs2287915
dbSNP
7524855 794.77 C T PASS 1/1 32 SYNONYMOUS_CODING LOW SILENT 0.22704 0.22700 0.21197 None None None None None None None
View hp37_1_filt_10x 19 rs2287918
dbSNP
7528734 287.78 A G PASS 1/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83247 0.83250 0.19104 0.68 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs2303142
dbSNP
7532252 237.8 G C PASS 1/1 10 SYNONYMOUS_CODING LOW SILENT 0.22824 0.22820 0.19109 None None None None None None None
View hp37_1_filt_10x 19 rs9329368
dbSNP
7533850 408.77 A G PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83427 0.83430 0.18783 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs2287914
dbSNP
7524846 849.77 C T PASS 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.18730 0.18730 0.20567 None None None None None None None
View hp37_1_filt_10x 19 rs10405143
dbSNP
7533767 365.77 T G PASS 1/1 17 SYNONYMOUS_CODING LOW SILENT 0.79054 0.79050 0.22986 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 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 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 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
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

ARRDC2

Omim - GeneCards - NCBI
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View hp37_1_filt_10x 19 rs7259041
dbSNP
18123738 301.77 T C PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31110 0.31110 0.30571 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs28597966
dbSNP
18119399 243.77 G A PASS 0/1 27 None None None 0.16194 0.16190 0.15651 0.22 0.01 None None None None None None None

ASF1B

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 rs8102698
dbSNP
14231330 311.77 A G PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.19728 0.19730 0.19883 None None None None None None None
View hp37_1_filt_10x 19 rs8102267
dbSNP
14231325 308.77 C G PASS 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.20168 0.20170 0.20175 None None None None None None None

ATP1A3

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 rs2217342
dbSNP
42489516 260.77 A C PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.90156 0.90160 0.07028 None None None None None None None

ATP4A

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 rs2733743
dbSNP
36050969 384.77 A G PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77157 0.77160 0.07375 1.00 0.00 None None None None None None None

ATP5SL

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 rs1043413
dbSNP
41939297 143.77 C G PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50679 0.50680 0.44787 0.04 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs2231940
dbSNP
41944237 183.77 T C PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38538 0.38540 0.33508 0.93 0.02 None None None None None None None

ATP8B3

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 rs16994559
dbSNP
1783146 243.77 T G PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08986 0.08986 0.09407 0.02 0.31 1.66 None None None None None None None
View hp37_1_filt_10x 19 rs7250872
dbSNP
1811603 558.77 C T PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39617 0.39620 0.35086 0.21 0.00 1.48 None None None None None None None
View hp37_1_filt_10x 19 rs12609187
dbSNP
1811547 466.77 A G PASS 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.82967 0.82970 0.14144 None None None None None None None
View hp37_1_filt_10x 19 rs45574836
dbSNP
1806667 130.77 C T PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06190 0.06190 0.03415 0.26 0.01 None None None None None None None
View hp37_1_filt_10x 19 rs16994563
dbSNP
1785185 116.77 C T PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04273 0.04273 0.05207 1.00 0.00 None None None None None None None

AXL

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 rs7249222
dbSNP
41743861 1118.77 A G PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None

B3GNT3

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 rs36686
dbSNP
17922795 733.77 G A PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74002 0.74000 0.20360 0.12 0.00 None None None None None None None