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+ Genes 753

Genes:
ABCA7, ABHD17A, ABHD8, AC010327.2, AC010642.1, AC012313.1, AC024592.12, ACER1, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADCK4, AES, AKAP8L, AMH, ANKLE1, ANKRD24, ANKRD27, ANO8, AP2S1, AP3D1, APBA3, APC2, APLP1, APOC4, APOE, ARHGEF1, ARHGEF18, ARID3A, ARRDC5, ASPDH, ATF5, ATP1A3, ATP5SL, ATP8B3, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BCAM, BCAT2, BCL3, BIRC8, C19orf12, C19orf24, C19orf25, C19orf26, C19orf33, C19orf35, C19orf53, C19orf55, C19orf68, C19orf81, C19orf84, C2CD4C, C3, C5AR1, CABP5, CACNA1A, CACTIN, CALR, CALR3, CAPN12, CARD8, CATSPERD, CATSPERG, CBLC, CCDC105, CCDC106, CCDC114, CCDC124, CCDC155, CCDC61, CCNE1, CD177, CD33, CD37, CD3EAP, CD70, CDC34, CDKN2D, CEACAM16, CEACAM18, CEACAM19, CEACAM5, CEACAM6, CEACAM7, CELF5, CEP89, CERS1, CERS4, CGB7, CHAF1A, CHERP, CHST8, CIB3, CIC, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC4M, CLPTM1, CNN2, CNOT3, COL5A3, COLGALT1, CPAMD8, CPT1C, CRB3, CREB3L3, CRTC1, CRX, CTB-102L5.4, CTB-54O9.9, CTD-3193O13.9, CTU1, CYP2A6, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, DAZAP1, DEDD2, DENND1C, DHDH, DHPS, DHX34, DKKL1, DLL3, DMKN, DMPK, DMRTC2, DMWD, DNAAF3, DNMT1, DOCK6, DOT1L, DPF1, DPY19L3, DUS3L, ECH1, ECSIT, EHD2, EID2, EID2B, ELAVL1, ELL, ELSPBP1, EMC10, EML2, EMR1, EMR2, EMR3, EPS15L1, EPS8L1, ERCC1, ERCC2, ERF, ERVV-2, ETFB, EVI5L, F2RL3, FAM129C, FAM187B, FAM71E2, FAM83E, FBN3, FBXO17, FBXO46, FCAR, FCER2, FCGBP, FCHO1, FFAR1, FFAR3, FGF21, FIZ1, FLT3LG, FPR1, FSD1, FTL, FUT1, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD3, FXYD5, GALP, GCDH, GDF15, GFY, GIPC1, GLTSCR1, GLTSCR2, GNA11, GNA15, GP6, GPATCH1, GPR108, GPR32, GPX4, GRAMD1A, GRIK5, GRIN2D, GRIN3B, GRWD1, GSK3A, GTPBP3, GYS1, GZMM, HAS1, HAUS8, HCN2, HDGFRP2, HIF3A, HKR1, HMHA1, HNRNPM, HNRNPUL1, HOMER3, HRC, HSD17B14, HSH2D, ICAM1, ICAM3, ICAM5, IFI30, IFNL4, IGFL1, IGFL4, IL11, IL12RB1, IL27RA, IL4I1, ILF3, ILVBL, INSL3, INSR, IRF2BP1, IRGQ, ISYNA1, IZUMO1, IZUMO2, JSRP1, KANK2, KANK3, KCNJ14, KCNK6, KDM4B, KEAP1, KHSRP, KIAA0355, KIAA1683, KIR2DL1, KIR2DL3, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIRREL2, KISS1R, KLF1, KLF2, KLK1, KLK10, KLK11, KLK12, KLK3, KLK4, KLK5, KLK7, KLK9, KMT2B, KPTN, KRI1, KXD1, LDLR, LENG8, LENG9, LGALS14, LGALS16, LGALS7B, LGI4, LHB, LIG1, LILRA2, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LINGO3, LMNB2, LPAR2, LPHN1, LPPR3, LRFN3, LRP3, LRRC25, LRRC4B, LRRC8E, LSR, LTBP4, LYL1, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAP1S, MAP2K2, MAP3K10, MARCH2, MARK4, MAST1, MAST3, MAU2, MBD3L1, MBOAT7, MED16, MIER2, MISP, MOB3A, MPND, MPV17L2, MRPL34, MRPL4, MRPL54, MUC16, MUM1, MVB12A, MYBPC2, MYH14, MYO9B, MYPOP, MZF1, NAT14, NCAN, NCLN, NCR1, NDUFA11, NDUFS7, NFKBID, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOTCH3, NOVA2, NPAS1, NPHS1, NR1H2, NR2F6, NRTN, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, NXNL1, ODF3L2, OLFM2, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D4, OR7E24, OR7G2, OSCAR, OVOL3, PALM, PALM3, PAPL, PCP2, PCSK4, PDE4C, PEG3, PEPD, PGLS, PGLYRP2, PHLDB3, PIAS4, PIK3R2, PIN1, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLIN5, PLK5, PNMAL1, PNPLA6, POLD1, POLR2E, PPAN-P2RY11, PPAP2C, PPP1R12C, PPP1R15A, PRAM1, PRKACA, PRKCG, PRKCSH, PRKD2, PRR12, PRR22, PRSS57, PRTN3, PRX, PSG11, PSG4, PSG5, PSG7, PSMD8, PTGIR, PTOV1, PTPRH, PTPRS, PVR, PVRL2, QPCTL, RAB11B, RAB3A, RAB8A, RASAL3, RASGRP4, RASIP1, RAVER1, RDH13, RDH8, RFPL4A, RFPL4AL1, RFX1, RFX2, RGL3, RGS9BP, RHPN2, RNF126, RPL28, RPS15, RPS16, RPS5, RRAS, RSPH6A, RTBDN, RYR1, S1PR2, S1PR5, SAE1, SAFB2, SBK2, SBK3, SBNO2, SBSN, SCAF1, SCN1B, SDHAF1, SEMA6B, SERTAD1, SF3A2, SGTA, SH2D3A, SHANK1, SHC2, SHD, SHKBP1, SIGLEC10, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIN3B, SIPA1L3, SIRT6, SIX5, SLC17A7, SLC1A6, SLC27A1, SLC27A5, SLC35E1, SLC39A3, SLC44A2, SLC5A5, SLC7A9, SNAPC2, SPHK2, SPIB, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STXBP2, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SYDE1, SYMPK, SYNE4, SYT3, TBC1D17, TBXA2R, TCF3, TDRD12, TEX101, TFPT, TGFB1, THAP8, TICAM1, TIMM50, TJP3, TLE6, TMEM143, TMEM150B, TMEM161A, TMEM221, TMEM238, TMEM259, TMEM86B, TMIGD2, TMPRSS9, TNFSF14, TNNT1, TOMM40, TPGS1, TRAPPC5, TSEN34, TSHZ3, TTYH1, TUBB4A, TULP2, TYK2, U2AF2, UBA2, UBA52, UBE2M, UBE2S, UBXN6, UNC13A, UQCRFS1, USE1, USF2, USHBP1, USP29, VASP, VN1R1, VN1R4, VSIG10L, VSTM1, VSTM2B, WDR18, WDR62, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, YIF1B, YIPF2, ZBTB32, ZBTB45, ZC3H4, ZFP28, ZFP82, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF112, ZNF132, ZNF135, ZNF14, ZNF146, ZNF154, ZNF155, ZNF160, ZNF175, ZNF177, ZNF180, ZNF181, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF229, ZNF233, ZNF234, ZNF235, ZNF253, ZNF256, ZNF260, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF317, ZNF320, ZNF324, ZNF333, ZNF345, ZNF347, ZNF350, ZNF382, ZNF404, ZNF415, ZNF417, ZNF419, ZNF429, ZNF432, ZNF440, ZNF441, ZNF443, ZNF446, ZNF45, ZNF461, ZNF468, ZNF470, ZNF480, ZNF486, ZNF490, ZNF493, ZNF497, ZNF507, ZNF524, ZNF527, ZNF529, ZNF530, ZNF534, ZNF536, ZNF543, ZNF544, ZNF548, ZNF549, ZNF550, ZNF552, ZNF554, ZNF555, ZNF561, ZNF565, ZNF566, ZNF567, ZNF57, ZNF573, ZNF574, ZNF578, ZNF579, ZNF580, ZNF583, ZNF584, ZNF587, ZNF587B, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF614, ZNF615, ZNF625, ZNF626, ZNF628, ZNF653, ZNF665, ZNF667, ZNF675, ZNF676, ZNF681, ZNF701, ZNF708, ZNF709, ZNF71, ZNF714, ZNF726, ZNF729, ZNF730, ZNF737, ZNF749, ZNF765, ZNF77, ZNF772, ZNF773, ZNF784, ZNF787, ZNF792, ZNF799, ZNF805, ZNF808, ZNF813, ZNF816, ZNF835, ZNF837, ZNF844, ZNF845, ZNF846, ZNF85, ZNF850, ZNF865, ZNF880, ZNF90, ZNF91, ZNF93, ZNF98, ZNRF4, ZSCAN1, ZSCAN4, ZSCAN5B,

+ Genes associated with diseases 122

Genes at Omim

ABCA7, ACTN4, ADAMTS10, ADAT3, AMH, AP2S1, AP3D1, APC2, APOE, ARHGEF18, ATP1A3, B9D2, BCAT2, BCL3, C19orf12, C3, CACNA1A, CALR, CCDC114, CEACAM16, CERS1, CHST8, CIC, CLEC4M, COLGALT1, CPAMD8, CPT1C, CRTC1, CRX, CYP2A6, CYP2B6, CYP4F22, DLL3, DMPK, DNAAF3, DNMT1, DOCK6, ERCC1, ERCC2, ERF, ETFB, FTL, FUT1, FUT2, FUT3, FUT6, FUZ, GCDH, GNA11, GP6, GPX4, GRIN2D, GTPBP3, GYS1, ICAM1, IL12RB1, INSL3, INSR, KANK2, KIR3DL1, KISS1R, KLF1, KLK1, KLK4, KMT2B, KPTN, LDLR, LGI4, LHB, LMNB2, LTBP4, LYL1, MAG, MAP2K2, MAST1, MBOAT7, MYH14, MYO9B, NDUFA11, NDUFS7, NLRP12, NOTCH3, NPHS1, NTF4, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKACA, PRKCG, PRKCSH, PRX, RAB11B, RGS9BP, RYR1, S1PR2, SCN1B, SDHAF1, SIPA1L3, SIX5, SLC5A5, SLC7A9, SPTBN4, STXBP2, SULT2B1, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TIMM50, TLE6, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, XRCC1,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
ADAT3 Mental retardation, autosomal recessive 36, 615286 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
AP2S1 Hypocalciuric hypercalcemia, type III, 600740 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
APC2 ?Sotos syndrome 3, 617169 (3)
APOE Alzheimer disease-2, 104310 (3)
Hyperlipoproteinemia, type III, 617347 (3)
Lipoprotein glomerulopathy, 611771 (3)
Sea-blue histiocyte disease, 269600 (3)
{?Macular degeneration, age-related}, 603075 (3)
{Coronary artery disease, severe, susceptibility to}, 617347 (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)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCL3 Leukemia/lymphoma, B-cell, 3 (2)
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)
CALR Myelofibrosis, somatic, 254450 (3)
Thrombocythemia, somatic, 187950 (3)
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CEACAM16 Deafness, autosomal dominant 4B, 614614 (3)
CERS1 ?Epilepsy, progressive myoclonic, 8, 616230 (3)
CHST8 ?Peeling skin syndrome 3, 616265 (3)
CIC Mental retardation, autosomal dominant 45, 617600 (3)
CLEC4M SARS infection, protection against (2)
COLGALT1 Brain small vessel disease 3, 618360 (3)
CPAMD8 Anterior segment dysgenesis 8, 617319 (3)
CPT1C ?Spastic paraplegia 73, autosomal dominant, 616282 (3)
CRTC1 Mucoepidermoid salivary gland carcinoma (3)
CRX Cone-rod retinal dystrophy-2, 120970 (3)
Leber congenital amaurosis 7, 613829 (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)
CYP4F22 Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DMPK Myotonic dystrophy 1, 160900 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (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)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (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)
FUT1 [Bombay phenotype], 616754 (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)
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)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
GYS1 Glycogen storage disease 0, muscle, 611556 (3)
ICAM1 {Malaria, cerebral, susceptibility to}, 611162 (3)
IL12RB1 Immunodeficiency 30, 614891 (3)
INSL3 Cryptorchidism, 219050 (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)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
KPTN Mental retardation, autosomal recessive 41, 615637 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LGI4 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LHB Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)
LMNB2 {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
?Epilepsy, progressive myoclonic, 9, 616540 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
LYL1 Leukemia, T-cell acute lymphoblastoid (2)
MAG Spastic paraplegia 75, autosomal recessive, 616680 (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)
MYH14 Deafness, autosomal dominant 4A, 600652 (3)
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFA11 Mitochondrial complex I deficiency, nuclear type 14, 618236 (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)
NTF4 Glaucoma 1, open angle, 1O, 613100 (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)
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
{Colorectal cancer, susceptibility to, 10}, 612591 (3)
PRKACA Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (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)
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)
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)
SIPA1L3 ?Cataract 45, 616851 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC5A5 Thyroid dyshormonogenesis 1, 274400 (3)
SLC7A9 Cystinuria, 220100 (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)
TGFB1 Camurati-Engelmann disease, 131300 (3)
Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TICAM1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TIMM50 3-methylglutaconic aciduria, type IX, 617698 (3)
TLE6 Preimplantation embryonic lethality, 616814 (3)
TNNT1 Nemaline myopathy 5, Amish type, 605355 (3)
TSEN34 ?Pontocerebellar hypoplasia type 2C, 612390 (3)
TUBB4A Leukodystrophy, hypomyelinating, 6, 612438 (3)
Dystonia 4, torsion, autosomal dominant, 128101 (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

ACTN4, ADAMTS10, ADCK4, AMH, AP2S1, APOE, ATP1A3, B9D2, BCAM, C3, CACNA1A, CALR3, CCDC114, CEACAM16, CERS1, CHST8, CPT1C, CRX, CYP2A6, CYP2B6, CYP4F2, CYP4F22, DLL3, DMPK, DNMT1, DOCK6, ERCC1, ERCC2, ERF, ETFB, FTL, FUT1, FUT3, FUT6, FUZ, GCDH, GNA11, GP6, GPX4, GTPBP3, GYS1, IL12RB1, INSL3, INSR, KANK2, KISS1R, KLF1, KLK4, KPTN, LDLR, LHB, LMNB2, LTBP4, MAG, MAP2K2, MYH14, NDUFA11, NDUFS7, NLRP12, NLRP7, NOTCH3, NPHS1, NTF4, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKACA, PRKCG, PRKCSH, PRX, RGS9BP, RYR1, S1PR2, SCN1B, SDHAF1, SIPA1L3, SIX5, SLC5A5, SLC7A9, STXBP2, SYNE4, TBXA2R, TCF3, 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
AP2S1 Hypocalciuric hypercalcemia, familial, type III
APOE Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III)
Lipoprotein glomerulopathy
Sea-blue histiocyte disease
ATP1A3 Alternating hemiplegia of childhood 2
B9D2 Meckel syndrome 10
BCAM Blood group, Lutheran system
Blood group, Auberger system
Lutheran, null
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
CCDC114 Ciliary dyskinesia, primary, 20
CEACAM16 Deafness, autosomal dominant 4B
CERS1 Epilepsy, progressive myoclonic 8
CHST8 Peeling skin syndrome 3
CPT1C Spastic paraplegia 73, autosomal dominant
CRX Leber congenital amaurosis 7
Cone-rod dystrophy 2
CYP2A6 CYP2A6-related drug metabolism
CYP2B6 Efavirenz, poor metabolism of
CYP4F2 Warfarin metabolism
CYP4F22 Ichthyosis, congenital, autosomal recessive 5
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DMPK Myotonic dystrophy 1
DNMT1 Neuropathy, hereditary sensory, type IE
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
DOCK6 Adams-Oliver syndrome 2
ERCC1 Cerebrooculofacioskeletal syndrome 4
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
FUT1 Bombay phenotype
Para-Bombay phenotype
H-deficient blood group
Reunion variant
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
GTPBP3 Combined oxidative phosphorylation deficiency 23
GYS1 Glycogen storage disease, type 0, muscle
IL12RB1 Immunodeficiency 30
INSL3 Cryptorchidism
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
KPTN Mental retardation, autosomal recessive 41
LDLR Hypercholesterolemia, familial
LHB Hypogonadotropic hypogonadism 23 with or without anosmia
LMNB2 Liopdystrophy, partial, acquired
Epilepsy, progressive myoclonic, 9
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAG Spastic paraplegia, autosomal recessive 75
MAP2K2 Cardiofaciocutaneous syndrome
MYH14 Deafness, autosomal dominant 4
Deafness, autosomal dominant 4B
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
NDUFA11 Mitochondrial complex I deficiency
NDUFS7 Mitochondrial complex I deficiency
Leigh syndrome
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 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
POLD1 Colorectal cancer, susceptibility to, 10
PRKACA Primary pigmented nodular adrenocortical disease 4
PRKCG Spinocerebellar ataxia 14
PRKCSH Polycystic liver disease
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
RGS9BP Bradyopsia
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
SCN1B Atrial fibrillation, familial 13
Brugada syndrome 5
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
SIX5 Branchiootorenal syndrome 2
SLC5A5 Thyroid dyshormonogenesis 1
SLC7A9 Cystinuria
STXBP2 Hemophagocytic lymphohistiocytosis, familial 5
SYNE4 Deafness, autosomal recessive, 76
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF3 Agammaglobulinemia 8, autosomal dominant
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 Dystonia 4, torsion, autosomal dominant
Leukodystrophy, hypomyelinating, 6
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: 4815
Number of Genes: 753

Export to: CSV

ABCA7
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 drift-nimh snps indels vqsr qced 19 rs117187003
dbSNP Clinvar 		1057343 12157.4 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00180 0.00180 0.00269 0.02 0.93 None None None None None None ABCA7|0.007770288|82.8%
View drift-nimh snps indels vqsr qced 19 rs4147935
dbSNP Clinvar 		1065044 364218.48 C T PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.26141 None None None None None None ABCA7|0.007770288|82.8%
View drift-nimh snps indels vqsr qced 19 rs4147934
dbSNP Clinvar 		1065018 864636.89 G T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60503 0.60500 0.25026 0.88 0.03 None None None None None None ABCA7|0.007770288|82.8%
View drift-nimh snps indels vqsr qced 19 rs3752246
dbSNP Clinvar 		1056492 775469.67 G C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82548 0.82550 0.12788 1.00 0.00 None None None None None None ABCA7|0.007770288|82.8%
View drift-nimh snps indels vqsr qced 19 rs4147930
dbSNP Clinvar 		1064193 661877.89 G A PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.60643 0.60640 0.29566 None None None None None None ABCA7|0.007770288|82.8%
View drift-nimh snps indels vqsr qced 19 rs3752240
dbSNP Clinvar 		1051214 350281.75 A G PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.28914 0.28910 0.36546 None None None None None None ABCA7|0.007770288|82.8%
View drift-nimh snps indels vqsr qced 19 . 1049347 1089.71 G GG... VQSRTrancheINDEL99.90to100.00 0/1 0 FRAME_SHIFT HIGH None None None None None None ABCA7|0.007770288|82.8%
View drift-nimh snps indels vqsr qced 19 rs3752237
dbSNP Clinvar 		1047161 461749.79 A G PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.69529 0.69530 0.37591 None None None None None None ABCA7|0.007770288|82.8%
View drift-nimh snps indels vqsr qced 19 rs3764645
dbSNP Clinvar 		1042809 453338.7 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39956 0.39960 0.38867 0.48 0.04 None None None None None None ABCA7|0.007770288|82.8%
View drift-nimh snps indels vqsr qced 19 rs3752234
dbSNP Clinvar 		1047002 621796.45 A G PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.57887 0.57890 0.46635 None None None None None None ABCA7|0.007770288|82.8%

ABHD17A
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 drift-nimh snps indels vqsr qced 19 rs762199778
dbSNP Clinvar 		1881526 4851.54 AG A VQSRTrancheINDEL99.50to99.90 0/1 0 FRAME_SHIFT HIGH None None None None None None ABHD17A|0.044405191|64.37%
View drift-nimh snps indels vqsr qced 19 rs768141721
dbSNP Clinvar 		1881528 4797.39 AAG A VQSRTrancheINDEL99.50to99.90 0/1 0 FRAME_SHIFT HIGH None None None None None None ABHD17A|0.044405191|64.37%

ABHD8
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 drift-nimh snps indels vqsr qced 19 rs3745186
dbSNP Clinvar 		17412218 80866.75 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13119 0.13120 0.12092 0.18 0.01 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%

AC010327.2
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 drift-nimh snps indels vqsr qced 19 rs755699314
dbSNP Clinvar 		55738987 1152.82 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None TMEM86B|0.001127619|94.8%

AC010642.1
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 drift-nimh snps indels vqsr qced 19 rs374431
dbSNP Clinvar 		58790713 939378.91 G C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60623 0.60620 0.00 0.00 None None None None None None ZNF8|0.004857832|86%
View drift-nimh snps indels vqsr qced 19 rs260501
dbSNP Clinvar 		58790807 1014793.46 T G PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.60663 0.60660 None None None None None None ZNF8|0.004857832|86%

AC012313.1
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 drift-nimh snps indels vqsr qced 19 rs747436338
dbSNP Clinvar 		58907568 2465.48 CAGG C VQSRTrancheINDEL99.00to99.50 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None
View drift-nimh snps indels vqsr qced 19 rs13343526
dbSNP Clinvar 		58908150 1434481.86 C G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85503 0.85500 1.00 0.00 None None None None None None None

AC024592.12
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 drift-nimh snps indels vqsr qced 19 rs778971
dbSNP Clinvar 		5867748 371740.07 G T PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.63878 0.63880 0.46529 0.09 0.65 None None None None None None FUT5|0.001156471|94.68%

ACER1
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 drift-nimh snps indels vqsr qced 19 rs76925618
dbSNP Clinvar 		6306857 27666.93 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00260 0.00260 0.00607 0.27 0.00 None None None None None None ACER1|0.011802088|79.38%

ACSBG2
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 drift-nimh snps indels vqsr qced 19 rs33937754
dbSNP Clinvar 		6156510 157044.4 A G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04952 0.04952 0.11026 0.75 0.03 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%

ACTL9
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 drift-nimh snps indels vqsr qced 19 rs10410943
dbSNP Clinvar 		8808900 973800.88 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79173 0.79170 0.27926 1.00 0.00 None None None None None None ACTL9|0.004666462|86.26%
View drift-nimh snps indels vqsr qced 19 rs4804079
dbSNP Clinvar 		8808373 629698.21 G T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60004 0.60000 0.47201 0.51 0.87 None None None None None None ACTL9|0.004666462|86.26%
View drift-nimh snps indels vqsr qced 19 rs2340550
dbSNP Clinvar 		8808942 972323.53 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79173 0.79170 0.28447 0.56 0.00 None None None None None None ACTL9|0.004666462|86.26%

ACTN4
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 drift-nimh snps indels vqsr qced 19 rs11553600
dbSNP Clinvar 		39196736 196484.79 G A PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.11542 0.11540 0.15316 None None None None None None ACTN4|0.387377198|21.58%
View drift-nimh snps indels vqsr qced 19 rs1136956
dbSNP Clinvar 		39219780 348429.5 T C PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.18750 0.18750 0.21375 None None None None None None ACTN4|0.387377198|21.58%

ADAMTS10
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 drift-nimh snps indels vqsr qced 19 rs7252299
dbSNP Clinvar 		8645786 596914.98 A C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99980 0.99980 0.00015 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%
View drift-nimh snps indels vqsr qced 19 rs7255721
dbSNP Clinvar 		8669931 705863.2 G C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View drift-nimh snps indels vqsr qced 19 rs265291
dbSNP Clinvar 		1510661 796883.99 A G PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.93570 0.93570 0.06900 None None None None None None ADAMTSL5|0.011039552|80.05%

ADAT3
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 drift-nimh snps indels vqsr qced 19 rs76159002
dbSNP Clinvar 		1912986 151189.66 C T PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.23702 0.23700 0.17341 None None None None None None SCAMP4|0.018776981|74.82%,ADAT3|0.006291951|84.29%
View drift-nimh snps indels vqsr qced 19 rs139117131
dbSNP Clinvar 		1912594 56505.07 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00579 0.00579 0.00639 0.11 0.07 None None None None None None SCAMP4|0.018776981|74.82%,ADAT3|0.006291951|84.29%
View drift-nimh snps indels vqsr qced 19 rs12984675
dbSNP Clinvar 		1912934 187885.53 T C PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.36322 0.36320 0.24623 None None None None None None SCAMP4|0.018776981|74.82%,ADAT3|0.006291951|84.29%

ADCK4
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 drift-nimh snps indels vqsr qced 19 rs11538385
dbSNP Clinvar 		41209477 260047.64 C T PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.22943 0.22940 0.23197 None None None None None None ADCK4|0.043749388|64.59%

AES
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 drift-nimh snps indels vqsr qced 19 rs11539938
dbSNP Clinvar 		3062857 304127.33 T C PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.38538 0.38540 0.35080 None None None None None None AES|0.064359463|58.79%

AKAP8L
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 drift-nimh snps indels vqsr qced 19 rs2058322
dbSNP Clinvar 		15508362 924155.98 G C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.71 0.00 None None None None None None AKAP8L|0.140468826|44.33%

AMH
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 drift-nimh snps indels vqsr qced 19 rs10417628
dbSNP Clinvar 		2251817 1537125.64 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99002 0.99000 0.01798 0.77 0.00 None None None None None None AMH|0.062219269|59.26%
View drift-nimh snps indels vqsr qced 19 rs10407022
dbSNP Clinvar 		2249477 1268170.32 G T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67592 0.67590 0.26055 0.00 0.37 None None None None None None AMH|0.062219269|59.26%
View drift-nimh snps indels vqsr qced 19 rs7252789
dbSNP Clinvar 		2251512 1562365.59 T A PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.91893 0.91890 None None None None None None AMH|0.062219269|59.26%

ANKLE1
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 drift-nimh snps indels vqsr qced 19 rs751599
dbSNP Clinvar 		17396549 919918.36 T C PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.19937 None None None None None None ANKLE1|0.002494569|89.7%
View drift-nimh snps indels vqsr qced 19 rs35586766
dbSNP Clinvar 		17392629 87305.81 G A PASS 0/1 0 None None None 0.15815 0.15810 0.27 0.09 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View drift-nimh snps indels vqsr qced 19 rs8100241
dbSNP Clinvar 		17392894 478981.36 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42732 0.42730 0.43512 0.01 0.88 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View drift-nimh snps indels vqsr qced 19 rs1864116
dbSNP Clinvar 		17393015 769095.21 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63538 0.63540 0.13051 0.21 0.02 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View drift-nimh snps indels vqsr qced 19 rs1864113
dbSNP Clinvar 		17393504 851018.2 G C PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.16019 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View drift-nimh snps indels vqsr qced 19 rs8108174
dbSNP Clinvar 		17393530 496234.95 T A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46066 0.46070 0.43206 0.01 1.00 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View drift-nimh snps indels vqsr qced 19 rs2363956
dbSNP Clinvar 		17394124 652748.4 T G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46066 0.46070 0.48747 0.03 1.00 None None None None None None ANKLE1|0.002494569|89.7%
View drift-nimh snps indels vqsr qced 19 rs891017
dbSNP Clinvar 		17394504 1106016.36 A C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63538 0.63540 0.19952 0.48 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View drift-nimh snps indels vqsr qced 19 rs11086065
dbSNP Clinvar 		17395003 813426.24 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63518 0.63520 0.19914 1.00 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View drift-nimh snps indels vqsr qced 19 rs11882562
dbSNP Clinvar 		17395055 739135.39 C G PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 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 drift-nimh snps indels vqsr qced 19 rs6510794
dbSNP Clinvar 		4217956 579674.41 A G PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.45048 0.45050 0.37911 None None None None None None ANKRD24|0.006993334|83.48%
View drift-nimh snps indels vqsr qced 19 rs2052191
dbSNP Clinvar 		4200156 362624.35 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40635 0.40630 0.45356 1.00 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View drift-nimh snps indels vqsr qced 19 rs58333777
dbSNP Clinvar 		4217587 486588.38 G A PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.33387 0.33390 None None None None None None ANKRD24|0.006993334|83.48%
View drift-nimh snps indels vqsr qced 19 rs353693
dbSNP Clinvar 		4217207 1249964.04 T G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97504 0.97500 0.05681 1.00 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View drift-nimh snps indels vqsr qced 19 rs10413818
dbSNP Clinvar 		4216910 1314086.55 G A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71166 0.71170 0.27616 0.11 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View drift-nimh snps indels vqsr qced 19 rs12978469
dbSNP Clinvar 		4210356 459835.3 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61282 0.61280 0.37995 0.11 0.01 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 drift-nimh snps indels vqsr qced 19 rs2287669
dbSNP Clinvar 		33110204 585490.11 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46026 0.46030 0.44710 0.22 0.08 None None None None None None ANKRD27|0.115031878|48.32%
View drift-nimh snps indels vqsr qced 19 rs405858
dbSNP Clinvar 		33106621 852550.07 C T PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.48083 0.48080 0.38974 None None None None None None ANKRD27|0.115031878|48.32%
View drift-nimh snps indels vqsr qced 19 rs2302970
dbSNP Clinvar 		33098632 648111.65 G C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26518 0.26520 0.41619 0.79 0.01 None None None None None None ANKRD27|0.115031878|48.32%
View drift-nimh snps indels vqsr qced 19 rs6510271
dbSNP Clinvar 		33117666 553563.24 T C PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 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 drift-nimh snps indels vqsr qced 19 rs61734355
dbSNP Clinvar 		17441909 81449.81 T G PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.04852 0.04852 0.09080 None None None None None None ANO8|0.037387399|66.65%
View drift-nimh snps indels vqsr qced 19 rs12977101
dbSNP Clinvar 		17434587 874785.62 T G PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.61861 0.61860 None None None None None None ANO8|0.037387399|66.65%
View drift-nimh snps indels vqsr qced 19 rs755124
dbSNP Clinvar 		17435851 89609.12 G T PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.04473 0.04473 0.08422 None None None None None None ANO8|0.037387399|66.65%
View drift-nimh snps indels vqsr qced 19 rs76655932
dbSNP Clinvar 		17439320 90937.49 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04812 0.04812 0.07870 0.31 0.01 None None None None None None ANO8|0.037387399|66.65%
View drift-nimh snps indels vqsr qced 19 rs3745191
dbSNP Clinvar 		17439034 98430.75 C T PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.10443 0.10440 0.09297 None None None None None None ANO8|0.037387399|66.65%
View drift-nimh snps indels vqsr qced 19 rs8102944
dbSNP Clinvar 		17438642 780269.66 A G PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.62181 0.62180 0.24289 None None None None None None ANO8|0.037387399|66.65%
View drift-nimh snps indels vqsr qced 19 rs755123
dbSNP Clinvar 		17435884 1197814.61 T C PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.61881 0.61880 0.24758 None None None None None None ANO8|0.037387399|66.65%

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 drift-nimh snps indels vqsr qced 19 rs312185
dbSNP Clinvar 		47342867 489229.37 A C PASS 0/1 0 None None None 0.59066 0.59070 0.48962 0.72 0.00 None None None None None None AP2S1|0.194093268|37.41%

AP3D1
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 drift-nimh snps indels vqsr qced 19 rs2074960
dbSNP Clinvar 		2116649 248034.42 A G PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.16334 0.16330 0.17480 None None None None None None AP3D1|0.055098943|61.17%
View drift-nimh snps indels vqsr qced 19 rs25672
dbSNP Clinvar 		2138654 340705.62 T G PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.23642 0.23640 0.33769 None None None None None None AP3D1|0.055098943|61.17%
View drift-nimh snps indels vqsr qced 19 rs20567
dbSNP Clinvar 		2110746 189550.86 G A PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.32508 0.32510 0.29864 None None None None None None AP3D1|0.055098943|61.17%

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 drift-nimh snps indels vqsr qced 19 rs8102086
dbSNP Clinvar 		3752874 576479.5 A G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04153 0.04153 0.49646 0.23 0.00 None None None None None None APBA3|0.009354531|81.41%
View drift-nimh snps indels vqsr qced 19 rs3746120
dbSNP Clinvar 		3753769 335672.52 C T PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.34006 0.34010 0.32226 None None None None None None APBA3|0.009354531|81.41%
View drift-nimh snps indels vqsr qced 19 rs34868972
dbSNP Clinvar 		3753874 150270.48 G A PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.09185 0.09185 0.11926 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 drift-nimh snps indels vqsr qced 19 . 1469431 197.96 A AG... VQSRTrancheINDEL99.90to100.00 0/1 0 FRAME_SHIFT HIGH None None None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%
View drift-nimh snps indels vqsr qced 19 . 1469424 228.75 C CA VQSRTrancheINDEL99.50to99.90 0/1 0 FRAME_SHIFT HIGH None None None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%
View drift-nimh snps indels vqsr qced 19 . 1469420 409.02 C T VQSRTrancheSNP99.50to99.90 0/1 0 SYNONYMOUS_CODING LOW SILENT None None None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%
View drift-nimh snps indels vqsr qced 19 . 1469426 226.31 CT C VQSRTrancheINDEL99.50to99.90 0/1 0 FRAME_SHIFT HIGH None None None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%
View drift-nimh snps indels vqsr qced 19 rs265273
dbSNP Clinvar 		1467684 1218799.55 A C PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.97584 0.97580 None None None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%

APLP1
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 drift-nimh snps indels vqsr qced 19 rs230261
dbSNP Clinvar 		36363470 25006.72 G A PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.05331 0.05331 0.06020 None None None None None None APLP1|0.135630209|45.02%
View drift-nimh snps indels vqsr qced 19 rs2227909
dbSNP Clinvar 		36370011 21890.72 G A PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.11522 0.11520 0.11664 None None None None None None APLP1|0.135630209|45.02%

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 drift-nimh snps indels vqsr qced 19 rs1132899
dbSNP Clinvar 		45448036 603386.4 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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%

APOE
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 drift-nimh snps indels vqsr qced 19 rs429358
dbSNP Clinvar 		45411941 156835.99 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15056 0.15060 0.14163 1.00 0.00 None None None None None None APOE|0.925476831|2.86%
View drift-nimh snps indels vqsr qced 19 rs440446
dbSNP Clinvar 		45409167 632328.58 C G PASS 0/1 0 None None None 0.62620 0.62620 0.00 None None None None None None APOE|0.925476831|2.86%

ARHGEF1
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 drift-nimh snps indels vqsr qced 19 . 42396148 451.38 A AG... VQSRTrancheINDEL99.50to99.90 0/1 0 CODON_INSERTION MODERATE None None None None None None ARHGEF1|0.122294725|47.07%

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 drift-nimh snps indels vqsr qced 19 rs9329368
dbSNP Clinvar 		7533850 908250.17 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83427 0.83430 0.18783 1.00 0.00 None None None None None None ARHGEF18|0.021386843|73.49%
View drift-nimh snps indels vqsr qced 19 rs2287918
dbSNP Clinvar 		7528734 732504.12 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83247 0.83250 0.19104 0.68 0.00 None None None None None None ARHGEF18|0.021386843|73.49%
View drift-nimh snps indels vqsr qced 19 rs10422503
dbSNP Clinvar 		7504982 572430.08 C T PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.34485 0.34480 None None None None None None ARHGEF18|0.021386843|73.49%
View drift-nimh snps indels vqsr qced 19 rs10405143
dbSNP Clinvar 		7533767 806016.21 T G PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.79054 0.79050 0.22986 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 drift-nimh snps indels vqsr qced 19 rs6510986
dbSNP Clinvar 		966693 1247986.4 C T PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.71486 0.71490 0.18296 None None None None None None ARID3A|0.039022569|66.1%
View drift-nimh snps indels vqsr qced 19 rs3826948
dbSNP Clinvar 		929678 670269.71 G A PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.46086 0.46090 0.42350 None None None None None None ARID3A|0.039022569|66.1%
View drift-nimh snps indels vqsr qced 19 rs1799595
dbSNP Clinvar 		929753 1041419.23 A G PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.88419 0.88420 0.12487 None None None None None None ARID3A|0.039022569|66.1%
View drift-nimh snps indels vqsr qced 19 rs12608658
dbSNP Clinvar 		965043 1047459.39 T C PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.93890 0.93890 0.05167 None None None None None None ARID3A|0.039022569|66.1%
View drift-nimh snps indels vqsr qced 19 rs1051504
dbSNP Clinvar 		971933 873722.95 A G PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.59485 0.59480 0.27105 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 drift-nimh snps indels vqsr qced 19 rs2779168
dbSNP Clinvar 		4902754 439180.76 G A PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT 0.12939 0.12940 0.26478 None None None None None None ARRDC5|0.003994483|87.03%

ASPDH
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 drift-nimh snps indels vqsr qced 19 rs12977172
dbSNP Clinvar 		51015404 646365.82 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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
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 drift-nimh snps indels vqsr qced 19 rs283526
dbSNP Clinvar 		50435862 208709.72 C T HighMissing 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66853 0.66850 0.35644 0.46 0.00 None None None None None None ATF5|0.036517544|66.96%
View drift-nimh snps indels vqsr qced 19 rs201354210
dbSNP Clinvar 		50435921 10597.49 C T HighMissing 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00938 0.00939 0.01779 0.68 0.28 None None None None None None ATF5|0.036517544|66.96%

ATP1A3
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 drift-nimh snps indels vqsr qced 19 rs919390
dbSNP Clinvar 		42471050 422094.24 G C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71945 0.71940 0.28832 0.00 None None None None None None ATP1A3|0.149065263|43.12%
View drift-nimh snps indels vqsr qced 19 rs2217342
dbSNP Clinvar 		42489516 950566.5 A C PASS 1/1 0 SYNONYMOUS_CODING LOW SILENT 0.90156 0.90160 0.07028 None None None None None None ATP1A3|0.149065263|43.12%

ATP5SL
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 drift-nimh snps indels vqsr qced 19 rs1043413
dbSNP Clinvar 		41939297 333339.99 C G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50679 0.50680 0.44787 0.04 0.00 None None None None None None ATP5SL|0.004191665|86.74%
View drift-nimh snps indels vqsr qced 19 rs2231940
dbSNP Clinvar 		41944237 286263.7 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38538 0.38540 0.33508 0.93 0.01 None None None None None None ATP5SL|0.004191665|86.74%