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+ Genes 682

Genes:
A1BG, ABCA7, ABHD17A, ABHD8, AC012313.1, ACPT, ACSBG2, ACTL9, ADAMTS10, ADAMTSL5, ADCK4, AKAP8, AKAP8L, ALDH16A1, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP2S1, APBA3, APC2, APOC4, ARHGAP33, ARHGAP35, ARHGEF18, ARID3A, ARRDC5, ASPDH, ATF5, ATP1A3, ATP4A, ATP8B3, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BCAM, BCKDHA, BIRC8, BLOC1S3, BRD4, BRSK1, BSG, BSPH1, BTBD2, C19orf12, C19orf24, C19orf26, C19orf35, C19orf40, C19orf44, C19orf53, C19orf54, C19orf55, C19orf68, C19orf71, C19orf73, C19orf81, C19orf83, C2CD4C, C3, C5AR1, C5AR2, CABP5, CACNA1A, CACTIN, CALR3, CAMSAP3, CAPN12, CARD8, CATSPERG, CBLC, CC2D1A, CCDC105, CCDC106, CCDC114, CCDC124, CCDC155, CCDC159, CCDC61, CCDC9, CCL25, CCNE1, CD177, CD22, CD33, CD37, CEACAM1, CEACAM18, CEACAM21, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CELF5, CEP89, CERS4, CGB1, CGB7, CHAF1A, CHERP, CIC, CILP2, CIRBP, CKM, CLASRP, CLEC17A, CLEC4G, CLEC4M, CLPTM1, CNFN, CNN2, CNOT3, COL5A3, COPE, CPAMD8, CPT1C, CRB3, CTD-2162K18.4, CTD-3193O13.9, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DCAF15, DDX49, DEDD2, DENND1C, DHDH, DHX34, DKKL1, DLL3, DMKN, DMWD, DNAJB1, DNASE2, DNM2, DNMT1, DOCK6, DOT1L, DPY19L3, ECH1, EEF2, EHD2, EIF3G, ELAVL1, ELSPBP1, EMR1, EMR2, EMR3, ERCC2, ERF, ERVV-2, ETFB, EVI5L, EXOSC5, FAM129C, FAM71E2, FAM83E, FAM98C, FBN3, FBXO17, FCAR, FCGBP, FCGRT, FCHO1, FFAR3, FGF21, FIZ1, FOXA3, FPR1, FPR3, FSD1, FTL, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD5, GADD45B, GADD45GIP1, GALP, GAPDHS, GCDH, GDF15, GFY, GIPR, GLTSCR1, GLTSCR2, GMIP, GNA11, GNA15, GP6, GPR108, GPX4, GRAMD1A, GRIN2D, GRIN3B, GRWD1, GSK3A, GYS1, GZMM, HAS1, HAUS8, HCN2, HDGFRP2, HIF3A, HKR1, HMHA1, HNRNPM, HOMER3, HOOK2, HSH2D, HSPBP1, ICAM3, IFI30, IFNL1, IFNL2, IGFL4, IGLON5, IL4I1, ILF3, INSR, IRF2BP1, IRGQ, ISYNA1, IZUMO1, KANK2, KCNA7, KCTD15, KDM4B, KHSRP, KIAA1683, KIR2DL1, KIR2DL3, KIR2DL4, KIR3DL1, KIR3DL3, KIRREL2, KISS1R, KLC3, KLF1, KLHL26, KLK1, KLK10, KLK14, KLK2, KLK4, KLK7, KLK8, KLK9, KXD1, LDLR, LENG8, LENG9, LGALS14, LGALS16, LHB, LIG1, LILRA1, LILRA2, LILRA3, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LIN7B, LINGO3, LIPE, LMNB2, LPAR2, LRFN1, LRP3, LRRC25, LRRC8E, LSR, LTBP4, MADCAM1, MAMSTR, MAN2B1, MAP2K2, MAP3K10, MARK4, MAST1, MAST3, MAU2, MBD3L1, MBD3L2, MBOAT7, MED16, MEF2B, MEGF8, MEX3D, MIDN, MIER2, MPND, MPV17L2, MRPS12, MUC16, MUM1, MYBPC2, MYH14, MYO9B, NAPSA, NCAN, NCR1, NDUFB7, NDUFS7, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP8, NLRP9, NOTCH3, NPAS1, NPHS1, NR1H2, NUCB1, NUMBL, NUP62, NWD1, OAZ1, ODF3L2, OLFM2, OPA3, OR10H1, OR10H2, OR10H3, OR10H5, OR1I1, OR1M1, OR2Z1, OR4F17, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, OR7D4, OR7G2, OSCAR, OVOL3, PAF1, PAPL, PCP2, PDE4A, PDE4C, PEG3, PEPD, PGLS, PIAS4, PIH1D1, PIK3R2, PIP5K1C, PLA2G4C, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLIN5, PLK5, PNMAL1, PNMAL2, PNPLA6, POLR2E, POLRMT, PPAN-P2RY11, PPAP2C, PPFIA3, PPP1R12C, PPP1R14A, PPP1R15A, PPP1R37, PPP5C, PRAM1, PRKCG, PRKCSH, PRKD2, PRODH2, PRR24, PRSS57, PRX, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PTBP1, PTH2, PTOV1, PTPRH, PTPRS, PVR, PVRL2, RAB11B, RAB3A, RAB8A, RASAL3, RASGRP4, RASIP1, RDH13, RDH8, REXO1, RFPL4A, RFPL4AL1, RFX1, RFX2, RGL3, RGS9BP, RHPN2, RINL, RNF126, RPS16, RRAS, RTN2, RYR1, S1PR2, SARS2, SBK2, SBK3, SBNO2, SBSN, SCAF1, SCN1B, SDHAF1, SEMA6B, SERTAD1, SH2D3A, SH3GL1, SHANK1, SHC2, SHD, SIGLEC10, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIN3B, SIRT2, SIRT6, SIX5, SLC1A5, SLC25A23, SLC25A41, SLC27A5, SLC35E1, SLC44A2, SLC7A9, SLC8A2, SMARCA4, SNAPC2, SPIB, SPTBN4, SSBP4, SSC5D, STAP2, STXBP2, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SYMPK, SYNE4, SYNGR4, SYT3, TBC1D17, TBXA2R, TCF3, TECR, TEX101, TICAM1, TJP3, TM6SF2, TMC4, TMEM143, TMEM150B, TMEM161A, TMEM221, TMEM259, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFSF14, TNNT1, TPM4, TRAPPC5, TRMT1, TRPM4, TSEN34, TSHZ3, TSPAN16, TSSK6, TTYH1, TULP2, TYK2, U2AF2, UBA2, UBXN6, UNC13A, UQCRFS1, URI1, USE1, USHBP1, USP29, VAV1, VMAC, VN1R1, VN1R4, VSIG10L, WDR18, WDR62, WDR87, WDR88, XAB2, XRCC1, YIF1B, YIPF2, ZBTB32, ZFP28, ZFP36, ZFR2, ZIM2, ZIM3, ZNF112, ZNF132, ZNF134, ZNF135, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF180, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF253, ZNF254, ZNF256, ZNF260, ZNF264, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF317, ZNF320, ZNF324, ZNF331, ZNF333, ZNF347, ZNF350, ZNF404, ZNF414, ZNF416, ZNF418, ZNF419, ZNF429, ZNF432, ZNF440, ZNF442, ZNF443, ZNF45, ZNF470, ZNF471, ZNF480, ZNF486, ZNF491, ZNF493, ZNF497, ZNF506, ZNF507, ZNF524, ZNF526, ZNF529, ZNF530, ZNF534, ZNF536, ZNF541, ZNF543, ZNF548, ZNF549, ZNF554, ZNF557, ZNF563, ZNF565, ZNF566, ZNF567, ZNF57, ZNF577, ZNF578, ZNF579, ZNF583, ZNF587B, ZNF600, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF626, ZNF627, ZNF628, ZNF665, ZNF667, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF69, ZNF701, ZNF708, ZNF714, ZNF728, ZNF730, ZNF749, ZNF77, ZNF772, ZNF780A, ZNF787, ZNF791, ZNF792, ZNF805, ZNF812, ZNF813, ZNF816, ZNF83, ZNF836, ZNF837, ZNF841, ZNF844, ZNF850, ZNF880, ZNF90, ZNF91, ZNF98, ZNRF4, ZSCAN1, ZSCAN22, ZSCAN5A, ZSCAN5B, ZSWIM4,

+ Genes associated with diseases 102

Genes at Omim

ABCA7, ACPT, ADAMTS10, AP2S1, APC2, ARHGEF18, ATP1A3, B9D2, BCKDHA, BLOC1S3, BSG, C19orf12, C3, CACNA1A, CC2D1A, CCDC114, CIC, CLEC4M, CPAMD8, CPT1C, CYP2A6, CYP2B6, DLL3, DNM2, DNMT1, DOCK6, EEF2, ERCC2, ERF, ETFB, FTL, FUT2, FUT3, FUT6, FUZ, GCDH, GIPR, GNA11, GP6, GPX4, GRIN2D, GYS1, INSR, KANK2, KIR3DL1, KISS1R, KLF1, KLK1, KLK4, LDLR, LHB, LIPE, LMNB2, LTBP4, MAN2B1, MAP2K2, MAST1, MBOAT7, MEGF8, MYH14, MYO9B, NDUFS7, NLRP12, NOTCH3, NPHS1, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, PRKCG, PRKCSH, PRX, RAB11B, RGS9BP, RTN2, RYR1, S1PR2, SARS2, SCN1B, SDHAF1, SH3GL1, SIX5, SLC7A9, SMARCA4, SPTBN4, STXBP2, SULT2B1, SYNE4, TBXA2R, TCF3, TECR, TICAM1, TNNT1, TRMT1, TRPM4, TSEN34, TYK2, WDR62, XRCC1,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACPT Amelogenesis imperfecta, type IJ, 617297 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
AP2S1 Hypocalciuric hypercalcemia, type III, 600740 (3)
APC2 ?Sotos syndrome 3, 617169 (3)
ARHGEF18 Retinitis pigmentosa 78, 617433 (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
B9D2 Joubert syndrome 34, 614175 (3)
?Meckel syndrome 10, 614175 (3)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
BLOC1S3 Hermansky-Pudlak syndrome 8, 614077 (3)
BSG [Blood group, OK], 111380 (3)
C19orf12 Neurodegeneration with brain iron accumulation 4, 614298 (3)
?Spastic paraplegia 43, autosomal recessive, 615043 (3)
C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
C3 deficiency, 613779 (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)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CIC Mental retardation, autosomal dominant 45, 617600 (3)
CLEC4M SARS infection, protection against (2)
CPAMD8 Anterior segment dysgenesis 8, 617319 (3)
CPT1C ?Spastic paraplegia 73, autosomal dominant, 616282 (3)
CYP2A6 {Lung cancer, resistance to}, 211980 (3)
Coumarin resistance, 122700 (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 Centronuclear myopathy 1, 160150 (3)
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)
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)
ERCC2 ?Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Xeroderma pigmentosum, group D, 278730 (3)
ERF Chitayat syndrome, 617180 (3)
Craniosynostosis 4, 600775 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
FTL Hyperferritinemia-cataract syndrome, 600886 (3)
L-ferritin deficiency, dominant and recessive, 615604 (3)
Neurodegeneration with brain iron accumulation 3, 606159 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
FUZ {Neural tube defects, susceptibility to}, 182940 (3)
GCDH Glutaricaciduria, type I, 231670 (3)
GIPR [Plasma glucose, 2-hour, QTL 2] (2)
GNA11 Hypocalcemia, autosomal dominant 2, 615361 (3)
Hypocalciuric hypercalcemia, type II, 145981 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRIN2D Epileptic encephalopathy, early infantile, 46, 617162 (3)
GYS1 Glycogen storage disease 0, muscle, 611556 (3)
INSR Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Leprechaunism, 246200 (3)
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Rabson-Mendenhall syndrome, 262190 (3)
KANK2 Nephrotic syndrome, type 16, 617783 (3)
Palmoplantar keratoderma and woolly hair, 616099 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)
?Precocious puberty, central, 1, 176400 (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)
LHB Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)
LIPE Lipodystrophy, familial partial, type 6, 615980 (3)
LMNB2 {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
?Epilepsy, progressive myoclonic, 9, 616540 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAN2B1 Mannosidosis, alpha-, types I and II, 248500 (3)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
MBOAT7 Mental retardation, autosomal recessive 57, 617188 (3)
MEGF8 Carpenter syndrome 2, 614976 (3)
MYH14 Deafness, autosomal dominant 4A, 600652 (3)
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFS7 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)
Lateral meningocele syndrome, 130720 (3)
?Myofibromatosis, infantile 2, 615293 (3)
NPHS1 Nephrotic syndrome, type 1, 256300 (3)
NUP62 Striatonigral degeneration, infantile, 271930 (3)
OPA3 Optic atrophy 3 with cataract, 165300 (3)
3-methylglutaconic aciduria, type III, 258501 (3)
PEPD Prolidase deficiency, 170100 (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)
PNPLA6 Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
?Laurence-Moon syndrome, 245800 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (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)
RAB11B Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3)
RGS9BP Bradyopsia, 608415 (3)
RTN2 Spastic paraplegia 12, autosomal dominant, 604805 (3)
RYR1 Central core disease, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
S1PR2 Deafness, autosomal recessive 68, 610419 (3)
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (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)
Epileptic encephalopathy, early infantile, 52, 617350 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC7A9 Cystinuria, 220100 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SPTBN4 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
SULT2B1 Ichthyosis, congenital, autosomal recessive 14, 617571 (3)
SYNE4 Deafness, autosomal recessive 76, 615540 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TECR Mental retardation, autosomal recessive 14, 614020 (3)
TICAM1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TNNT1 Nemaline myopathy 5, Amish type, 605355 (3)
TRMT1 Mental retardation, autosomal recessive 68, 618302 (3)
TRPM4 Progressive familial heart block, type IB, 604559 (3)
TSEN34 ?Pontocerebellar hypoplasia type 2C, 612390 (3)
TYK2 Immunodeficiency 35, 611521 (3)
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
XRCC1 ?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3)

Genes at Clinical Genomics Database

ADAMTS10, ADCK4, AP2S1, ATP1A3, B9D2, BCAM, BCKDHA, BLOC1S3, BSG, C3, CACNA1A, CALR3, CC2D1A, CCDC114, CPT1C, CYP2A6, CYP2B6, CYP4F2, DLL3, DNM2, DNMT1, DOCK6, ERCC2, ERF, ETFB, FTL, FUT3, FUT6, FUZ, GCDH, GNA11, GP6, GPX4, GYS1, INSR, KANK2, KISS1R, KLF1, KLK4, LDLR, LHB, LIPE, LMNB2, LTBP4, MAN2B1, MAP2K2, MEGF8, MYH14, NDUFS7, NLRP12, NOTCH3, NPHS1, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, PRKCG, PRKCSH, PRX, RGS9BP, RTN2, RYR1, S1PR2, SARS2, SCN1B, SDHAF1, SIX5, SLC7A9, SMARCA4, STXBP2, SYNE4, TBXA2R, TCF3, TECR, TICAM1, TNNT1, TRPM4, TSEN34, TYK2, WDR62, ZIM2, ZNF480, ZNF565,
ADAMTS10 Weill-Marchesani syndrome 1
ADCK4 Nephrotic syndrome, type 9
AP2S1 Hypocalciuric hypercalcemia, familial, type III
ATP1A3 Alternating hemiplegia of childhood 2
B9D2 Meckel syndrome 10
BCAM Blood group, Lutheran system
Blood group, Auberger system
Lutheran, null
BCKDHA Maple syrup urine disease, type Ia
BLOC1S3 Hermansky-Pudlak syndrome 8
BSG Blood group, OK
C3 Complement component 3 deficiency, autosomal recessive
Hemolytic uremic syndrome, atypical, susceptibility to, 5
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CALR3 Cardiomyopathy, familial hypertrophic, 19
CC2D1A Mental retardation, autosomal recessive 3
CCDC114 Ciliary dyskinesia, primary, 20
CPT1C Spastic paraplegia 73, autosomal dominant
CYP2A6 CYP2A6-related drug metabolism
CYP2B6 Efavirenz, poor metabolism of
CYP4F2 Warfarin metabolism
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DNM2 Charcot-Marie-Tooth disease, dominant intermediate B
Charcot-Marie-Tooth disease, axonal, type 2M
Myopathy, centronuclear
Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive
DNMT1 Neuropathy, hereditary sensory, type IE
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
DOCK6 Adams-Oliver syndrome 2
ERCC2 Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
ERF Craniosynostosis 4
ETFB Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
FTL L-ferritin deficiency
Neurodegeneration with brain iron accumulation 3
Hyperferritinemia-cataract syndrome
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
FUZ Neural tube defects, susceptibility to
GCDH Glutaric aciduria, type I
GNA11 Hypocalcemia 2, autosomal dominant
Hypocalciuric hypercalcemia, autosomal dominant
GP6 Bleeding disorder, platelet-type, 11
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GYS1 Glycogen storage disease, type 0, muscle
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
KANK2 Palmoplantar keratoderma and woolly hair
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
KLF1 Anemia, dyserythropoietic congenital, type IV
Blood group, Lutheran inhibitor
KLK4 Amelogenesis imperfecta, type IIA1
LDLR Hypercholesterolemia, familial
LHB Hypogonadotropic hypogonadism 23 with or without anosmia
LIPE Abdominal obesity-metabolic syndrome 4
LMNB2 Liopdystrophy, partial, acquired
Epilepsy, progressive myoclonic, 9
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAN2B1 Mannosidosis, alpha B, lysosomal
MAP2K2 Cardiofaciocutaneous syndrome
MEGF8 Carpenter syndrome 2
MYH14 Deafness, autosomal dominant 4
Deafness, autosomal dominant 4B
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
NDUFS7 Mitochondrial complex I deficiency
Leigh syndrome
NLRP12 Familial cold autoinflammatory syndrome 2
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
NPHS1 Nephrotic syndrome, type 1
NUP62 Striatonigral degeneration, infantile
OPA3 3-methylglutaconic aciduria, type III
Optic atrophy 3, autosomal dominant
PEPD Prolidase deficiency
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PNPLA6 Boucher-Neuhauser syndrome
Laurence-Moon syndrome
Oliver-McFarlane syndrome
PRKCG Spinocerebellar ataxia 14
PRKCSH Polycystic liver disease
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
RGS9BP Bradyopsia
RTN2 Spastic paraplegia 12, autosomal dominant
RYR1 Malignant hyperthermia, susceptibility 1
Central core disease
Minicore myopathy
Multicore myopathy
Minicore myopathy with external ophthalmoplegia
Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
S1PR2 Deafness, autosomal recessive 68
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
SCN1B Atrial fibrillation, familial 13
Brugada syndrome 5
SDHAF1 Mitochondrial complex II deficiency
SIX5 Branchiootorenal syndrome 2
SLC7A9 Cystinuria
SMARCA4 Rhabdoid tumor predisposition syndrome 2
STXBP2 Hemophagocytic lymphohistiocytosis, familial 5
SYNE4 Deafness, autosomal recessive, 76
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF3 Agammaglobulinemia 8, autosomal dominant
TECR Mental retardation, autosomal recessive 14
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TNNT1 Nemaline myopathy 5
TRPM4 Progressive familial heart block, type IB
TSEN34 Pontocerebellar hypoplasia type 2C
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: 1659
Number of Genes: 682

Export to: CSV

A1BG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs893184
dbSNP Clinvar 		58864479 2199.0 T C PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.84844 0.84840 0.10849 0.91 0.00 None None None None None None A1BG|0.00221541|90.38%

ABCA7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs3745842
dbSNP Clinvar 		1055191 344.0 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.39058 0.39060 0.40647 0.54 0.00 None None None None None None ABCA7|0.007770288|82.8%
View cds 3422_16 19 rs3752234
dbSNP Clinvar 		1047002 1606.0 A G PASS 1/1 35 SYNONYMOUS_CODING LOW None 0.57887 0.57890 0.46635 None None None None None None ABCA7|0.007770288|82.8%
View cds 3422_16 19 rs3752237
dbSNP Clinvar 		1047161 1119.0 A G PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.37591 None None None None None None ABCA7|0.007770288|82.8%
View cds 3422_16 19 rs9282560
dbSNP Clinvar 		1048982 289.0 C T PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.00499 0.00499 0.00162 None None None None None None ABCA7|0.007770288|82.8%
View cds 3422_16 19 rs4147914
dbSNP Clinvar 		1049269 358.0 G A PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.24062 0.24060 0.15286 None None None None None None ABCA7|0.007770288|82.8%
View cds 3422_16 19 rs4147915
dbSNP Clinvar 		1049305 495.0 C A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.19988 0.19990 0.13185 None None None None None None ABCA7|0.007770288|82.8%
View cds 3422_16 19 rs3764652
dbSNP Clinvar 		1052005 329.0 C T PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.37939 0.37940 0.40154 None None None None None None ABCA7|0.007770288|82.8%
View cds 3422_16 19 rs4147930
dbSNP Clinvar 		1064193 597.0 G A PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.60643 0.60640 0.29566 None None None None None None ABCA7|0.007770288|82.8%
View cds 3422_16 19 rs3752246
dbSNP Clinvar 		1056492 1249.0 G C PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.82548 0.82550 0.12788 1.00 0.00 None None None None None None ABCA7|0.007770288|82.8%
View cds 3422_16 19 rs3752243
dbSNP Clinvar 		1054060 1656.0 A G PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.53614 0.53610 0.47355 None None None None None None ABCA7|0.007770288|82.8%

ABHD17A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs4807160
dbSNP Clinvar 		1880950 1029.0 T C PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.63099 0.63100 0.36662 1.00 0.00 None None None None None None ABHD17A|0.044405191|64.37%

ABHD8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs11086066
dbSNP Clinvar 		17412366 267.0 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.23702 0.23700 0.24633 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%
View cds 3422_16 19 rs11086067
dbSNP Clinvar 		17412399 275.0 G A PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.23862 0.23860 0.24494 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%

AC012313.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs13343526
dbSNP Clinvar 		58908150 430.0 C G PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.85503 0.85500 1.00 0.00 None None None None None None None

ACPT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs2162784
dbSNP Clinvar 		51293955 307.0 G A PASS 0/1 32 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09964 0.09964 0.08964 None None None None None None ACPT|0.016239372|76.31%

ACSBG2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs4807840
dbSNP Clinvar 		6156483 710.0 T C PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.71206 0.71210 0.29994 1.00 0.00 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%

ACTL9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs10410943
dbSNP Clinvar 		8808900 1692.0 A G PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.79173 0.79170 0.27926 1.00 0.00 None None None None None None ACTL9|0.004666462|86.26%
View cds 3422_16 19 rs4804079
dbSNP Clinvar 		8808373 1252.0 G T PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.60004 0.60000 0.47201 0.51 0.87 None None None None None None ACTL9|0.004666462|86.26%
View cds 3422_16 19 rs2340550
dbSNP Clinvar 		8808942 1414.0 A G PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.79173 0.79170 0.28447 0.56 0.00 None None None None None None ACTL9|0.004666462|86.26%

ADAMTS10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs4476282
dbSNP Clinvar 		8651562 1598.0 A G PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.18470 0.18470 0.21728 None None None None None None ADAMTS10|0.099701531|51.23%
View cds 3422_16 19 rs7255721
dbSNP Clinvar 		8669931 2107.0 G C PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.89397 0.89400 0.21830 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%

ADAMTSL5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs265291
dbSNP Clinvar 		1510661 1006.0 A G PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.93570 0.93570 0.06900 None None None None None None ADAMTSL5|0.011039552|80.05%

ADCK4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs3865452
dbSNP Clinvar 		41211056 596.0 T C PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.47744 0.47740 0.45248 0.53 0.00 None None None None None None ADCK4|0.043749388|64.59%

AKAP8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs61757556
dbSNP Clinvar 		15483942 315.0 C T PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00177 0.07 0.82 None None None None None None AKAP8|0.019632827|74.36%

AKAP8L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs2058322
dbSNP Clinvar 		15508362 3070.0 G C PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.71 0.00 None None None None None None AKAP8L|0.140468826|44.33%

ALDH16A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs10853810
dbSNP Clinvar 		49969085 1284.0 C T PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.20927 0.20930 0.33884 None None None None None None ALDH16A1|0.021103617|73.62%
View cds 3422_16 19 rs11558188
dbSNP Clinvar 		49967981 806.0 T G PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.20986 0.20990 0.33692 None None None None None None ALDH16A1|0.021103617|73.62%
View cds 3422_16 19 rs1320303
dbSNP Clinvar 		49964977 880.0 C G PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.51018 0.51020 0.34881 1.00 0.00 None None None None None None ALDH16A1|0.021103617|73.62%

ANKLE1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs11086065
dbSNP Clinvar 		17395003 1233.0 A G PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.63518 0.63520 0.19914 1.00 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View cds 3422_16 19 rs751599
dbSNP Clinvar 		17396549 1625.0 T C PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19937 None None None None None None ANKLE1|0.002494569|89.7%
View cds 3422_16 19 rs1864113
dbSNP Clinvar 		17393504 240.0 G C PASS 0/1 8 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.16019 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View cds 3422_16 19 rs11882562
dbSNP Clinvar 		17395055 1075.0 C G PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19922 None None None None None None ANKLE1|0.002494569|89.7%

ANKRD24
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs353693
dbSNP Clinvar 		4217207 3070.0 T G PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.97504 0.97500 0.05681 1.00 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View cds 3422_16 19 rs2052191
dbSNP Clinvar 		4200156 557.0 G A PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.40635 0.40630 0.45356 1.00 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View cds 3422_16 19 rs10413818
dbSNP Clinvar 		4216910 2258.0 G A PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.71166 0.71170 0.27616 0.11 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View cds 3422_16 19 rs12978469
dbSNP Clinvar 		4210356 1936.0 G A PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.61282 0.61280 0.37995 0.11 0.01 None None None None None None ANKRD24|0.006993334|83.48%
View cds 3422_16 19 rs6510794
dbSNP Clinvar 		4217956 683.0 A G PASS 0/1 13 SYNONYMOUS_CODING LOW None 0.45048 0.45050 0.37911 None None None None None None ANKRD24|0.006993334|83.48%

ANKRD27
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs405858
dbSNP Clinvar 		33106621 2760.0 C T PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.48083 0.48080 0.38974 None None None None None None ANKRD27|0.115031878|48.32%
View cds 3422_16 19 rs2302970
dbSNP Clinvar 		33098632 1218.0 G C PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.26518 0.26520 0.41619 0.79 0.01 None None None None None None ANKRD27|0.115031878|48.32%
View cds 3422_16 19 rs2287669
dbSNP Clinvar 		33110204 901.0 T C PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.46026 0.46030 0.44710 0.22 0.08 None None None None None None ANKRD27|0.115031878|48.32%
View cds 3422_16 19 rs6510271
dbSNP Clinvar 		33117666 1671.0 T C PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.65196 0.65200 0.34084 None None None None None None ANKRD27|0.115031878|48.32%

ANO8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs56286266
dbSNP Clinvar 		17435887 268.0 C T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.24621 0.24620 0.27157 None None None None None None ANO8|0.037387399|66.65%
View cds 3422_16 19 rs8102944
dbSNP Clinvar 		17438642 1514.0 A G PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.62181 0.62180 0.24289 None None None None None None ANO8|0.037387399|66.65%
View cds 3422_16 19 rs755123
dbSNP Clinvar 		17435884 1308.0 T C PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.61881 0.61880 0.24758 None None None None None None ANO8|0.037387399|66.65%

AP1M1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs3752797
dbSNP Clinvar 		16339715 1813.0 C T PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.45208 0.45210 0.44187 None None None None None None AP1M1|0.058029862|60.39%

AP2S1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs312185
dbSNP Clinvar 		47342867 1619.0 A C PASS 0/1 40 None None None 0.59066 0.59070 0.48962 0.72 0.00 None None None None None None AP2S1|0.194093268|37.41%

APBA3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs61735536
dbSNP Clinvar 		3752515 99.0 G A PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.17193 0.17190 0.08882 None None None None None None APBA3|0.009354531|81.41%
View cds 3422_16 19 rs8102086
dbSNP Clinvar 		3752874 1018.0 A G PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.04153 0.04153 0.49646 0.23 0.00 None None None None None None APBA3|0.009354531|81.41%

APC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs265273
dbSNP Clinvar 		1467684 650.0 A C PASS 1/1 8 SYNONYMOUS_CODING LOW None 0.97584 0.97580 None None None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%

APOC4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs5167
dbSNP Clinvar 		45448465 361.0 T G PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.43930 0.43930 0.39236 1.00 0.00 None None None None None None APOC4|0.001267277|94.07%,APOC4-APOC2|0.001598854|92.35%
View cds 3422_16 19 rs1132899
dbSNP Clinvar 		45448036 290.0 T C PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.66434 0.66430 0.41833 0.46 0.00 None None None None None None APOC4|0.001267277|94.07%,APOC4-APOC2|0.001598854|92.35%

ARHGAP33
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs231235
dbSNP Clinvar 		36278470 1137.0 C G PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.53474 0.53470 0.44447 None None None None None None ARHGAP33|0.074124913|56.5%

ARHGAP35
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs375605717
dbSNP Clinvar 		47422004 759.0 C T PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.00024 None None None None None None ARHGAP35|0.387087068|21.6%

ARHGEF18
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs10422503
dbSNP Clinvar 		7504982 714.0 C T PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.34485 0.34480 None None None None None None ARHGEF18|0.021386843|73.49%
View cds 3422_16 19 rs9329368
dbSNP Clinvar 		7533850 1153.0 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.83427 0.83430 0.18783 1.00 0.00 None None None None None None ARHGEF18|0.021386843|73.49%
View cds 3422_16 19 rs10405143
dbSNP Clinvar 		7533767 989.0 T G PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.79054 0.79050 0.22986 None None None None None None ARHGEF18|0.021386843|73.49%
View cds 3422_16 19 rs2287918
dbSNP Clinvar 		7528734 991.0 A G PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.83247 0.83250 0.19104 0.68 0.00 None None None None None None ARHGEF18|0.021386843|73.49%

ARID3A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs12608658
dbSNP Clinvar 		965043 1998.0 T C PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.93890 0.93890 0.05167 None None None None None None ARID3A|0.039022569|66.1%
View cds 3422_16 19 rs1051504
dbSNP Clinvar 		971933 1357.0 A G PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.59485 0.59480 0.27105 None None None None None None ARID3A|0.039022569|66.1%
View cds 3422_16 19 rs1799595
dbSNP Clinvar 		929753 1236.0 A G PASS 1/1 20 SYNONYMOUS_CODING LOW None 0.88419 0.88420 0.12487 None None None None None None ARID3A|0.039022569|66.1%
View cds 3422_16 19 rs6510986
dbSNP Clinvar 		966693 1447.0 C T PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.71486 0.71490 0.18296 None None None None None None ARID3A|0.039022569|66.1%

ARRDC5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs2779168
dbSNP Clinvar 		4902754 453.0 G A PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.12939 0.12940 0.26478 None None None None None None ARRDC5|0.003994483|87.03%

ASPDH
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 cds 3422_16 19 rs12977172
dbSNP Clinvar 		51015404 1364.0 T C PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.79593 0.79590 0.23869 0.49 0.00 None None None None None None ASPDH|0.011680011|79.47%

ATF5
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 cds 3422_16 19 rs61742136
dbSNP Clinvar 		50436115 149.0 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.03914 0.03914 0.03579 None None None None None None ATF5|0.036517544|66.96%

ATP1A3
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 cds 3422_16 19 rs2217342
dbSNP Clinvar 		42489516 271.0 A C PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.90156 0.90160 0.07028 None None None None None None ATP1A3|0.149065263|43.12%

ATP4A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs2733743
dbSNP Clinvar 		36050969 2203.0 A G PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.77157 0.77160 0.07375 1.00 0.00 None None None None None None ATP4A|0.257805486|30.94%

ATP8B3
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 cds 3422_16 19 rs7250872
dbSNP Clinvar 		1811603 631.0 C T PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.39617 0.39620 0.35086 0.21 0.00 None None None None None None ATP8B3|0.003576519|87.64%
View cds 3422_16 19 rs12609187
dbSNP Clinvar 		1811547 2286.0 A G PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.82967 0.82970 0.14144 None None None None None None ATP8B3|0.003576519|87.64%
View cds 3422_16 19 rs8100856
dbSNP Clinvar 		1796166 378.0 C T PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.26637 0.26640 0.14573 1.00 0.00 None None None None None None ATP8B3|0.003576519|87.64%
View cds 3422_16 19 rs12978609
dbSNP Clinvar 		1789556 676.0 C T PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.30970 0.30970 0.25485 None None None None None None ATP8B3|0.003576519|87.64%
View cds 3422_16 19 rs3764606
dbSNP Clinvar 		1784944 1133.0 A G PASS 0/1 53 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.42951 0.42950 0.47849 None None None None None None ATP8B3|0.003576519|87.64%
View cds 3422_16 19 rs3764605
dbSNP Clinvar 		1784890 1172.0 A G PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.42931 0.42930 0.47886 None None None None None None ATP8B3|0.003576519|87.64%
View cds 3422_16 19 rs2385387
dbSNP Clinvar 		1783261 664.0 C T PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.30112 0.30110 0.33953 None None None None None None ATP8B3|0.003576519|87.64%

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 cds 3422_16 19 rs7249222
dbSNP Clinvar 		41743861 1591.0 A G PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None AXL|0.122230241|47.08%

AZU1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs595844
dbSNP Clinvar 		830854 2208.0 T C PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.66693 0.66690 0.34922 None None None None None None AZU1|0.002495752|89.7%
View cds 3422_16 19 rs12460890
dbSNP Clinvar 		829568 435.0 C T PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.33027 0.33030 0.26057 None None None None None None AZU1|0.002495752|89.7%

B3GNT3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs36686
dbSNP Clinvar 		17922795 362.0 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.74002 0.74000 0.20360 0.12 0.05 None None None None None None B3GNT3|0.00215134|90.58%

B3GNT8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs284663
dbSNP Clinvar 		41932612 1406.0 C T PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.61741 0.61740 0.31906 None None None None None None B3GNT8|0.010708534|80.36%
View cds 3422_16 19 rs284662
dbSNP Clinvar 		41932275 1812.0 T C PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.62181 0.62180 0.31362 0.89 0.00 None None None None None None B3GNT8|0.010708534|80.36%
View cds 3422_16 19 rs284661
dbSNP Clinvar 		41932120 1805.0 C T PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.49082 0.49080 0.44949 None None None None None None B3GNT8|0.010708534|80.36%
View cds 3422_16 19 rs284660
dbSNP Clinvar 		41932084 1400.0 G T PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.49101 0.49100 0.44879 None None None None None None B3GNT8|0.010708534|80.36%
View cds 3422_16 19 rs45563938
dbSNP Clinvar 		41932063 394.0 A G PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.06270 0.06270 0.10557 None None None None None None B3GNT8|0.010708534|80.36%

B9D2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs2241714
dbSNP Clinvar 		41869392 1392.0 T C PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.64956 0.64960 0.27549 0.15 0.01 None None None None None None TMEM91|0.011320437|79.75%,B9D2|0.087237839|53.74%

BCAM
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs3810141
dbSNP Clinvar 		45316804 490.0 C T PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.10004 0.10000 0.07137 None None None None None None BCAM|0.011093426|79.98%
View cds 3422_16 19 rs3810140
dbSNP Clinvar 		45316807 486.0 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.09325 0.09325 0.06249 None None None None None None BCAM|0.011093426|79.98%

BCKDHA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs4674
dbSNP Clinvar 		41930396 1362.0 A G PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.61701 0.61700 0.32301 None None None None None None BCKDHA|0.387424816|21.57%
View cds 3422_16 19 rs284652
dbSNP Clinvar 		41928652 1032.0 C T PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.61641 0.61640 0.32393 None None None None None None BCKDHA|0.387424816|21.57%

BIRC8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs2865248
dbSNP Clinvar 		53793574 1190.0 A G PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.60244 0.60240 0.36007 None None None None None None BIRC8|0.002356272|90.03%
View cds 3422_16 19 rs34683072
dbSNP Clinvar 		53792954 1312.0 G A PASS 0|1 105 NON_SYNONYMOUS_CODING MODERATE None 0.03015 0.03015 0.03352 0.07 0.20 None None None None None None BIRC8|0.002356272|90.03%
View cds 3422_16 19 rs35700345
dbSNP Clinvar 		53792955 1304.0 C T PASS 0|1 114 NON_SYNONYMOUS_CODING MODERATE None 0.02975 0.02975 0.03299 1.00 0.01 None None None None None None BIRC8|0.002356272|90.03%
View cds 3422_16 19 rs8109165
dbSNP Clinvar 		53793042 1376.0 G A PASS 0/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.56230 0.56230 0.40389 0.01 0.01 None None None None None None BIRC8|0.002356272|90.03%

BLOC1S3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs758506
dbSNP Clinvar 		45682824 297.0 G A PASS 0/1 9 SYNONYMOUS_CODING LOW None 0.14856 0.14860 0.09062 None None None None None None MARK4|0.139462613|44.48%,BLOC1S3|0.011503495|79.6%

BRD4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs11669901
dbSNP Clinvar 		15350594 389.0 G A PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.13199 0.13200 0.16131 None None None None None None BRD4|0.360722244|23.39%

BRSK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs12973169
dbSNP Clinvar 		55817676 252.0 G A PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.09006 0.09006 0.11910 None None None None None None BRSK1|0.100511909|51.06%
View cds 3422_16 19 rs17851415
dbSNP Clinvar 		55815159 298.0 C A PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.08387 0.08387 0.06459 None None None None None None BRSK1|0.100511909|51.06%

BSG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs2229664
dbSNP Clinvar 		580388 491.0 C G PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.19010 0.19010 0.12423 None None None None None None BSG|0.001507008|92.75%

BSPH1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs147623821
dbSNP Clinvar 		48480089 416.0 G C PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00088 None None None None None None BSPH1|0.00069923|97.24%

BTBD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs1610045
dbSNP Clinvar 		1997363 1096.0 A G PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.45467 0.45470 0.40351 None None None None None None BTBD2|0.01881083|74.8%

C19orf12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3422_16 19 rs10424582
dbSNP Clinvar 		30193721 692.0 G A PASS 1/1 16 SYNONYMOUS_CODING LOW None 0.61382 0.61380 0.24796 None None None None None None C19orf12|0.015097362|77.08%