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+ Genes 691

Genes:
A1BG, ABCA7, ABHD17A, ABHD8, AC012313.1, AC024592.12, ACER1, ACPT, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAT3, ADCK4, AKAP8L, ALDH16A1, AMH, ANGPTL6, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP3D1, APBA3, APOC4, ARHGEF1, ARHGEF18, ARID3A, ARMC6, ARRDC5, ASF1B, ASPDH, ATP13A1, ATP1A3, ATP4A, ATP5SL, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BCAM, BCAT2, BCKDHA, BIRC8, BSG, C19orf12, C19orf24, C19orf26, C19orf33, C19orf35, C19orf40, C19orf45, C19orf48, C19orf53, C19orf55, C19orf73, C19orf81, C2CD4C, C3, C5AR1, CABP5, CACNA1A, CACTIN, CALR3, CAMSAP3, CAPN12, CARD8, CATSPERD, CATSPERG, CCDC105, CCDC106, CCDC114, CCDC124, CCDC151, CCDC155, CCDC61, CCDC8, CCDC9, CCDC94, CCER2, CCL25, CD177, CD22, CD33, CD37, CD3EAP, CDKN2D, CEACAM18, CEACAM19, CEACAM21, CEACAM4, CEACAM5, CEACAM6, CEP89, CERS4, CHAF1A, CHERP, CIB3, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC17A, CLEC4M, CLPTM1, CNN2, CNOT3, CNTD2, COL5A3, COPE, CPAMD8, CPT1C, CTB-102L5.4, CTD-3193O13.9, CYP2A6, CYP2A7, CYP2B6, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DAZAP1, DDA1, DEDD2, DENND1C, DKKL1, DLL3, DMKN, DMRTC2, DMWD, DNAAF3, DNAJB1, DNM2, DNMT1, DOCK6, DOHH, DOT1L, DPY19L3, EBI3, ECH1, ECSIT, EEF2, EHD2, EID2B, EIF3G, ELAVL3, ELSPBP1, EMC10, EML2, EMR1, EMR2, EMR3, EPS8L1, ERCC1, ERCC2, ERVV-1, ERVV-2, ETFB, ETV2, EVI5L, F2RL3, FAM129C, FAM187B, FAM71E2, FAM98C, FBL, FBN3, FBXO17, FCAR, FCGBP, FCHO1, FDX1L, FFAR1, FFAR2, FFAR3, FPR1, FPR3, FSD1, FSTL3, FTL, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD3, FXYD5, FZR1, GADD45B, GAMT, GAPDHS, GATAD2A, GCDH, GDF1, GDF15, GIPC1, GLTSCR1, GLTSCR2, GNA11, GNA15, GP6, GPATCH1, GPR108, GPR4, GPX4, GRAMD1A, GRIN2D, GRIN3B, GRWD1, GSK3A, GTPBP3, GYS1, GZMM, HAPLN4, HAS1, HAUS8, HCN2, HDGFRP2, HIF3A, HIPK4, HMHA1, HNRNPL, HNRNPM, HNRNPUL1, HOMER3, HSH2D, HSPB6, ICAM1, ICAM3, ICAM5, IFI30, IFNL2, IFNL3, IL11, IL12RB1, IL4I1, ILF3, ILVBL, INSR, IRGQ, JSRP1, KANK3, KCNK6, KDM4B, KEAP1, KHSRP, KIAA0355, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIRREL2, KLC3, KLHL26, KLK1, KLK10, KLK12, KLK14, KLK3, KLK4, KLK5, KLK7, KLK9, KMT2B, KPTN, KRI1, KXD1, LDLR, LENG8, LGALS14, LGALS16, LGI4, LHB, LIG1, LILRA2, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LINGO3, LMNB2, LPHN1, LPPR3, LRG1, LRP3, LRRC25, LRRC4B, LRRC8E, LSM14A, LSM4, LSR, LTBP4, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP2K2, MAP3K10, MAP4K1, MARCH2, MARK4, MAST3, MAU2, MBD3L1, MBOAT7, MCOLN1, MED16, MED29, MFSD12, MIDN, MIER2, MOB3A, MPND, MPV17L2, MRPL54, MUC16, MUM1, MYBPC2, MYH14, MYO9B, MYPOP, NAPSA, NCAN, NCLN, NCR1, NDUFA11, NDUFA7, NDUFB7, NDUFS7, NFKBID, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOTCH3, NOVA2, NPAS1, NPHS1, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, OCEL1, ODF3L2, OLFM2, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR1I1, OR1M1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D4, OR7E24, OR7G3, OSCAR, PALM, PAPL, PCP2, PCSK4, PDCD5, PDE4A, PDE4C, PEPD, PEX11G, PGLYRP2, PHLDB3, PIAS4, PIH1D1, PIK3R2, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLEKHG2, PLIN3, PLIN4, PLIN5, PLK5, PNKP, PNMAL2, PNPLA6, POLD1, POLR2E, POLRMT, POP4, PPAN-P2RY11, PPFIA3, PPM1N, PPP1R12C, PPP1R15A, PPP5C, PPP5D1, PPP6R1, PRKCG, PRKD2, PRODH2, PRR12, PRR24, PRSS57, PRX, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PTBP1, PTGIR, PTOV1, PTPRH, PTPRS, PVR, PVRL2, QPCTL, RASGRP4, RASIP1, RAVER1, RDH13, RDH8, REXO1, RGL3, RGS9BP, RHPN2, RINL, RNF126, RPL13A, RPS16, RPS9, RRAS, RUVBL2, RYR1, S1PR2, S1PR5, SAE1, SAMD1, SARS2, SBK2, SBK3, SBNO2, SBSN, SDHAF1, SELV, SERTAD1, SGTA, SH2D3A, SH3GL1, SHD, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC35E1, SLC39A3, SLC44A2, SLC7A9, SLC8A2, SMARCA4, SNAPC2, SPIB, SPTBN4, SSC5D, STAP2, STXBP2, SUGP2, SULT2A1, SULT2B1, SUPT5H, SYNE4, SYT3, TARM1, TBC1D17, TBXA2R, TCF3, TGFB1, THEG, TICAM1, TIMM44, TJP3, TM6SF2, TMC4, TMEM143, TMEM150B, TMEM161A, TMEM221, TMEM259, TMEM86B, TMEM91, TMPRSS9, TNFSF14, TNNT1, TRAPPC5, TRIM28, TRIP10, TRPM4, TSEN34, TSSK6, TTYH1, TULP2, TYK2, U2AF2, UBA2, UBA52, UBE2S, UBXN6, UNC13A, UPK1A, URI1, USE1, USHBP1, USP29, VAV1, VN1R4, VSIG10L, VSTM1, WDR18, WDR62, WDR88, XAB2, XRCC1, YIF1B, ZBTB32, ZC3H4, ZFP28, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF101, ZNF112, ZNF132, ZNF135, ZNF146, ZNF155, ZNF160, ZNF175, ZNF177, ZNF180, ZNF181, ZNF221, ZNF222, ZNF223, ZNF224, ZNF226, ZNF227, ZNF229, ZNF233, ZNF253, ZNF256, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF320, ZNF324, ZNF331, ZNF333, ZNF347, ZNF350, ZNF382, ZNF404, ZNF415, ZNF416, ZNF419, ZNF432, ZNF44, ZNF440, ZNF441, ZNF45, ZNF468, ZNF470, ZNF471, ZNF480, ZNF490, ZNF492, ZNF493, ZNF497, ZNF507, ZNF524, ZNF529, ZNF534, ZNF536, ZNF543, ZNF544, ZNF548, ZNF549, ZNF550, ZNF554, ZNF555, ZNF557, ZNF566, ZNF567, ZNF568, ZNF57, ZNF571, ZNF573, ZNF577, ZNF578, ZNF585A, ZNF585B, ZNF599, ZNF600, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF625, ZNF626, ZNF653, ZNF665, ZNF667, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF701, ZNF708, ZNF714, ZNF737, ZNF749, ZNF765, ZNF77, ZNF772, ZNF773, ZNF781, ZNF792, ZNF799, ZNF8, ZNF808, ZNF813, ZNF836, ZNF837, ZNF844, ZNF880, ZNF93, ZNF98, ZNRF4, ZSCAN1, ZSCAN4, ZSCAN5B, ZSWIM4,

+ Genes associated with diseases 110

Genes at Omim

ABCA7, ACPT, ACTN4, ADAMTS10, ADAT3, AMH, AP3D1, ARHGEF18, ATP1A3, AURKC, B9D2, BCAT2, BCKDHA, BSG, C19orf12, C3, CACNA1A, CCDC114, CCDC151, CCDC8, CLEC4M, CPAMD8, CPT1C, CYP2A6, CYP2B6, DLL3, DNAAF3, DNM2, DNMT1, DOCK6, EEF2, ERCC1, ERCC2, ETFB, FDX1L, FTL, FUT2, FUT3, FUT6, FUZ, GAMT, GCDH, GDF1, GNA11, GP6, GPX4, GRIN2D, GTPBP3, GYS1, ICAM1, IFNL3, IL12RB1, INSR, KIR3DL1, KLK1, KLK4, KMT2B, KPTN, LDLR, LGI4, LHB, LMNB2, LTBP4, MAG, MAN2B1, MAP2K2, MBOAT7, MCOLN1, MYH14, MYO9B, NDUFA11, NDUFS7, NLRP12, NOTCH3, NPHS1, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNKP, PNPLA6, POLD1, PRKCG, PRX, RGS9BP, RYR1, S1PR2, SARS2, SDHAF1, SH3GL1, SIPA1L3, SIX5, SLC7A9, SMARCA4, SPTBN4, STXBP2, SULT2B1, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TNNT1, TRPM4, TSEN34, TYK2, WDR62, XRCC1,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACPT Amelogenesis imperfecta, type IJ, 617297 (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)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
ARHGEF18 Retinitis pigmentosa 78, 617433 (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
AURKC Spermatogenic failure 5, 243060 (3)
B9D2 Joubert syndrome 34, 614175 (3)
?Meckel syndrome 10, 614175 (3)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
BSG [Blood group, OK], 111380 (3)
C19orf12 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)
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC151 Ciliary dyskinesia, primary, 30, 616037 (3)
CCDC8 3-M syndrome 3, 614205 (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)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (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)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ERCC2 ?Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Xeroderma pigmentosum, group D, 278730 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
FDX1L Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (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)
GAMT Cerebral creatine deficiency syndrome 2, 612736 (3)
GCDH Glutaricaciduria, type I, 231670 (3)
GDF1 Congenital heart defects, multiple types, 6, 613854 (3)
Right atrial isomerism (Ivemark), 208530 (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)
IFNL3 {Hepatitis C virus infection, response to therapy of}, 609532 (3)
IL12RB1 Immunodeficiency 30, 614891 (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)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (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)
MAG Spastic paraplegia 75, autosomal recessive, 616680 (3)
MAN2B1 Mannosidosis, alpha-, types I and II, 248500 (3)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MBOAT7 Mental retardation, autosomal recessive 57, 617188 (3)
MCOLN1 Mucolipidosis IV, 252650 (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)
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)
PNKP Ataxia-oculomotor apraxia 4, 616267 (3)
Microcephaly, seizures, and developmental delay, 613402 (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)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (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)
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SIPA1L3 ?Cataract 45, 616851 (3)
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)
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)
TNNT1 Nemaline myopathy 5, Amish type, 605355 (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

ACTN4, ADAMTS10, ADCK4, AMH, ATP1A3, AURKC, B9D2, BCAM, BCKDHA, BSG, C3, CACNA1A, CALR3, CCDC114, CCDC151, CCDC8, CPT1C, CYP2A6, CYP2B6, CYP4F2, DLL3, DNM2, DNMT1, DOCK6, ERCC1, ERCC2, ETFB, FTL, FUT3, FUT6, FUZ, GAMT, GCDH, GDF1, GNA11, GP6, GPX4, GTPBP3, GYS1, IFNL3, IL12RB1, INSR, KLK4, KPTN, LDLR, LHB, LMNB2, LTBP4, MAG, MAN2B1, MAP2K2, MCOLN1, MYH14, NDUFA11, NDUFS7, NLRP12, NLRP7, NOTCH3, NPHS1, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNKP, PNPLA6, POLD1, PRKCG, PRX, RGS9BP, RYR1, S1PR2, SARS2, SDHAF1, SIPA1L3, SIX5, SLC7A9, SMARCA4, STXBP2, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TNNT1, TRPM4, TSEN34, TYK2, WDR62, ZIM2, ZNF480,
ACTN4 Focal segmental glomerulosclerosis 1
ADAMTS10 Weill-Marchesani syndrome 1
ADCK4 Nephrotic syndrome, type 9
AMH Persistent Mullerian duct syndrome, type I
ATP1A3 Alternating hemiplegia of childhood 2
AURKC Spermatogenic failure 5
B9D2 Meckel syndrome 10
BCAM Blood group, Lutheran system
Blood group, Auberger system
Lutheran, null
BCKDHA Maple syrup urine disease, type Ia
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
CCDC114 Ciliary dyskinesia, primary, 20
CCDC151 Ciliary dyskinesia, primary,30
CCDC8 Three M syndrome 3
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
ERCC1 Cerebrooculofacioskeletal syndrome 4
ERCC2 Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
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
GAMT Guanidinoacetate methyltransferase deficiency
GCDH Glutaric aciduria, type I
GDF1 Transposition of the great arteries, dextro-looped 3
Double-outlet right ventricle
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
IFNL3 Drug metabolism, IL28B-related
IL12RB1 Immunodeficiency 30
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
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
MAN2B1 Mannosidosis, alpha B, lysosomal
MAP2K2 Cardiofaciocutaneous syndrome
MCOLN1 Mucolipidosis IV
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
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
PNKP Ataxia-oculomotor apraxia-4
Epileptic encephalopathy, early infantile, 10
PNPLA6 Boucher-Neuhauser syndrome
Laurence-Moon syndrome
Oliver-McFarlane syndrome
POLD1 Colorectal cancer, susceptibility to, 10
PRKCG Spinocerebellar ataxia 14
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
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
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
TGFB1 Camurati-Engelmann disease
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

Genes at HGMD

Summary

Number of Variants: 2844
Number of Genes: 691

Export to: CSV

A1BG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 19 rs893184
dbSNP Clinvar 		58864479 292.03 T C PASS 1/1 30 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 19 rs3752237
dbSNP Clinvar 		1047161 865.636 A G PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.37591 None None None None None None ABCA7|0.007770288|82.8%
View sp16_961 19 rs4147914
dbSNP Clinvar 		1049269 865.144 G A PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.24062 0.24060 0.15286 None None None None None None ABCA7|0.007770288|82.8%
View sp16_961 19 rs3752234
dbSNP Clinvar 		1047002 712.099 A G PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.57887 0.57890 0.46635 None None None None None None ABCA7|0.007770288|82.8%

ABHD17A
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 sp16_961 19 rs4807160
dbSNP Clinvar 		1880950 89.9421 T C PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.63099 0.63100 0.36662 1.00 0.00 -1.80 0.00 0.10297 T 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 sp16_961 19 rs11086067
dbSNP Clinvar 		17412399 421.467 G A PASS 0/1 171 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%
View sp16_961 19 rs11086066
dbSNP Clinvar 		17412366 391.108 G A PASS 0/1 174 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%

AC012313.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 19 . 58908240 22.7469 T G PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.49 None None None None None None None
View sp16_961 19 . 58908203 29.4935 G A PASS 0/1 10 SYNONYMOUS_CODING LOW None None None None None None None None

AC024592.12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 19 rs778971
dbSNP Clinvar 		5867748 120.822 G T PASS 0/1 121 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63878 0.63880 0.46529 0.09 0.62 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 sp16_961 19 rs16993553
dbSNP Clinvar 		6333476 311.617 G A PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.09006 0.09006 0.06968 None None None None None None ACER1|0.011802088|79.38%

ACPT
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 sp16_961 19 . 51297825 71.9111 GC AA PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.44 0.00 None None None None None None ACPT|0.016239372|76.31%

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 sp16_961 19 rs4807840
dbSNP Clinvar 		6156483 862.994 T C PASS 1/1 92 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 19 rs4804079
dbSNP Clinvar 		8808373 339.19 G T PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.60004 0.60000 0.47201 0.51 1.00 None None None None None None ACTL9|0.004666462|86.26%
View sp16_961 19 rs2340550
dbSNP Clinvar 		8808942 531.318 A G PASS 1/1 55 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%
View sp16_961 19 rs10410943
dbSNP Clinvar 		8808900 531.502 A G PASS 1/1 56 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%

ACTN4
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 sp16_961 19 rs11553600
dbSNP Clinvar 		39196736 154.845 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.11542 0.11540 0.15316 None None None None None None ACTN4|0.387377198|21.58%
View sp16_961 19 rs1136956
dbSNP Clinvar 		39219780 121.094 T C PASS 0/1 30 SYNONYMOUS_CODING LOW None 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
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 19 rs7255721
dbSNP Clinvar 		8669931 674.21 G C PASS 1/1 76 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%
View sp16_961 19 rs7252299
dbSNP Clinvar 		8645786 125.789 A C PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00015 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%

ADAT3
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 sp16_961 19 rs12984675
dbSNP Clinvar 		1912934 31.3184 T C PASS 0/1 27 SYNONYMOUS_CODING LOW None 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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 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 19 rs11538385
dbSNP Clinvar 		41209477 88.4674 C T PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.22943 0.22940 0.23197 None None None None None None ADCK4|0.043749388|64.59%
View sp16_961 19 rs3865452
dbSNP Clinvar 		41211056 35.4328 T C PASS 0/1 50 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%

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 sp16_961 19 rs2058322
dbSNP Clinvar 		15508362 579.045 G C PASS 1/1 66 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 sp16_961 19 rs11558188
dbSNP Clinvar 		49967981 185.534 T G PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.20986 0.20990 0.33692 None None None None None None ALDH16A1|0.021103617|73.62%

AMH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 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 sp16_961 19 rs10417628
dbSNP Clinvar 		2251817 488.049 T C PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.99002 0.99000 0.01798 0.77 0.00 None None None None None None AMH|0.062219269|59.26%
View sp16_961 19 rs10407022
dbSNP Clinvar 		2249477 748.285 G T PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.67592 0.67590 0.26055 0.00 0.07 None None None None None None AMH|0.062219269|59.26%

ANGPTL6
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 sp16_961 19 rs771005223
dbSNP Clinvar 		10203328 74.1134 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None None None None None None None C19orf66|0.035658932|67.25%,ANGPTL6|0.018407205|75.01%

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 sp16_961 19 rs891017
dbSNP Clinvar 		17394504 183.416 A C PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.63538 0.63540 0.19952 0.48 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View sp16_961 19 rs1864116
dbSNP Clinvar 		17393015 304.425 C T PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.63538 0.63540 0.13051 0.21 0.15 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View sp16_961 19 rs11882562
dbSNP Clinvar 		17395055 26.1391 C G PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19922 None None None None None None ANKLE1|0.002494569|89.7%
View sp16_961 19 rs751599
dbSNP Clinvar 		17396549 131.387 T C PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19937 None None None None None None ANKLE1|0.002494569|89.7%
View sp16_961 19 rs8100241
dbSNP Clinvar 		17392894 352.437 G A PASS 0/1 175 NON_SYNONYMOUS_CODING MODERATE None 0.42732 0.42730 0.43512 0.01 1.00 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View sp16_961 19 rs1864113
dbSNP Clinvar 		17393504 169.223 G C PASS 0/1 69 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 sp16_961 19 rs8108174
dbSNP Clinvar 		17393530 233.969 T A PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.46066 0.46070 0.43206 0.01 0.99 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View sp16_961 19 rs2363956
dbSNP Clinvar 		17394124 144.222 T G PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.46066 0.46070 0.48747 0.03 1.00 None None None None None None ANKLE1|0.002494569|89.7%
View sp16_961 19 rs11086065
dbSNP Clinvar 		17395003 26.14 A G PASS 0/1 16 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%

ANKRD24
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 sp16_961 19 rs2052191
dbSNP Clinvar 		4200156 77.5564 G A PASS 0/1 27 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 sp16_961 19 rs12978469
dbSNP Clinvar 		4210356 172.313 G A PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.61282 0.61280 0.37995 0.11 0.60 None None None None None None ANKRD24|0.006993334|83.48%
View sp16_961 19 rs10413818
dbSNP Clinvar 		4216910 165.059 G A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.71166 0.71170 0.27616 0.11 0.00 -0.95 0.01 0.26745 T 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 sp16_961 19 rs141889621
dbSNP Clinvar 		33134037 250.154 C T PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.00100 0.00100 0.00162 None None None None None None ANKRD27|0.115031878|48.32%
View sp16_961 19 rs369469738
dbSNP Clinvar 		33093003 57.9159 C T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.00300 0.00300 None None None None None None ANKRD27|0.115031878|48.32%
View sp16_961 19 rs7248273
dbSNP Clinvar 		33096816 308.723 C T PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.18151 0.18150 0.15424 None None None None None None ANKRD27|0.115031878|48.32%
View sp16_961 19 rs405858
dbSNP Clinvar 		33106621 302.019 C T PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.48083 0.48080 0.38974 None None None None None None ANKRD27|0.115031878|48.32%
View sp16_961 19 rs2287669
dbSNP Clinvar 		33110204 119.45 T C PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.46026 0.46030 0.44710 0.22 0.00 None None None None None None ANKRD27|0.115031878|48.32%
View sp16_961 19 rs6510271
dbSNP Clinvar 		33117666 158.14 T C PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.65196 0.65200 0.34084 None None None None None None ANKRD27|0.115031878|48.32%
View sp16_961 19 rs7247420
dbSNP Clinvar 		33096786 1134.5 G A PASS 1/1 122 SYNONYMOUS_CODING LOW None 0.23463 0.23460 0.18653 None None None None None None ANKRD27|0.115031878|48.32%

ANO8
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 sp16_961 19 rs755123
dbSNP Clinvar 		17435884 260.83 T C PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.61881 0.61880 0.24758 None None None None None None ANO8|0.037387399|66.65%
View sp16_961 19 rs56286266
dbSNP Clinvar 		17435887 262.845 C T PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.24621 0.24620 0.27157 None None None None None None ANO8|0.037387399|66.65%
View sp16_961 19 rs777149212
dbSNP Clinvar 		17438567 353.008 G A PASS 0/1 93 SYNONYMOUS_CODING LOW None None None None None None None ANO8|0.037387399|66.65%
View sp16_961 19 rs8102944
dbSNP Clinvar 		17438642 362.946 A G PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.62181 0.62180 0.24289 None None None None None None ANO8|0.037387399|66.65%

AP1M1
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 sp16_961 19 rs3752797
dbSNP Clinvar 		16339715 1064.82 C T PASS 1/1 112 SYNONYMOUS_CODING LOW None 0.45208 0.45210 0.44187 None None None None None None AP1M1|0.058029862|60.39%

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 sp16_961 19 rs20567
dbSNP Clinvar 		2110746 253.18 G A PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.32508 0.32510 0.29864 None None None None None None AP3D1|0.055098943|61.17%
View sp16_961 19 rs25672
dbSNP Clinvar 		2138654 322.86 T G PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.23642 0.23640 0.33769 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 sp16_961 19 rs8102086
dbSNP Clinvar 		3752874 118.823 A G PASS 0/1 43 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%
View sp16_961 19 rs3746120
dbSNP Clinvar 		3753769 36.3188 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.34006 0.34010 0.32226 None None None None None None APBA3|0.009354531|81.41%

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 sp16_961 19 rs5167
dbSNP Clinvar 		45448465 72.6402 T G PASS 0/1 47 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 sp16_961 19 rs1132899
dbSNP Clinvar 		45448036 146.527 T C PASS 0/1 79 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%

ARHGEF1
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 sp16_961 19 rs2288509
dbSNP Clinvar 		42392310 223.438 C T PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.26717 0.26720 0.19468 None None None None None None ARHGEF1|0.122294725|47.07%

ARHGEF18
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 sp16_961 19 rs2287918
dbSNP Clinvar 		7528734 180.633 A G PASS 1/1 21 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%
View sp16_961 19 rs9329368
dbSNP Clinvar 		7533850 279.43 A G PASS 1/1 29 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 sp16_961 19 rs10422503
dbSNP Clinvar 		7504982 183.135 C T PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.34485 0.34480 None None None None None None ARHGEF18|0.021386843|73.49%
View sp16_961 19 rs10405143
dbSNP Clinvar 		7533767 254.962 T G PASS 1/1 27 SYNONYMOUS_CODING LOW None 0.79054 0.79050 0.22986 None None None None None None ARHGEF18|0.021386843|73.49%

ARID3A
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 19 rs1799595
dbSNP Clinvar 		929753 928.471 A G PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.88419 0.88420 0.12487 None None None None None None ARID3A|0.039022569|66.1%
View sp16_961 19 rs12608658
dbSNP Clinvar 		965043 604.582 T C PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.93890 0.93890 0.05167 None None None None None None ARID3A|0.039022569|66.1%
View sp16_961 19 rs6510986
dbSNP Clinvar 		966693 388.32 C T PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.71486 0.71490 0.18296 None None None None None None ARID3A|0.039022569|66.1%
View sp16_961 19 rs1051504
dbSNP Clinvar 		971933 243.174 A G PASS 1/1 26 SYNONYMOUS_CODING LOW None 0.59485 0.59480 0.27105 None None None None None None ARID3A|0.039022569|66.1%
View sp16_961 19 rs1051505
dbSNP Clinvar 		971949 239.369 G A PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.02935 0.71870 0.17055 0.34 0.00 -0.03 None None None None None None ARID3A|0.039022569|66.1%
View sp16_961 19 rs34967265
dbSNP Clinvar 		929741 491.873 C T PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.16074 0.16070 0.11017 None None None None None None ARID3A|0.039022569|66.1%

ARMC6
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 sp16_961 19 . 19153601 35.3873 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None None None None None None None ARMC6|0.011162271|79.89%

ARRDC5
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 sp16_961 19 rs138665621
dbSNP Clinvar 		4902680 194.477 C T PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.00639 0.00639 0.00066 0.38 0.00 None None None None None None ARRDC5|0.003994483|87.03%

ASF1B
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 sp16_961 19 rs8102698
dbSNP Clinvar 		14231330 121.328 A G PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.19728 0.19730 0.19883 None None None None None None ASF1B|0.250445793|31.49%
View sp16_961 19 rs8102267
dbSNP Clinvar 		14231325 121.176 C G PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.20168 0.20170 0.20175 None None None None None None ASF1B|0.250445793|31.49%

ASPDH
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 sp16_961 19 rs12977172
dbSNP Clinvar 		51015404 49.8004 T C PASS 0/1 68 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%
View sp16_961 19 rs116995433
dbSNP Clinvar 		51016200 312.601 C T PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.00539 0.00539 0.01430 0.09 0.01 None None None None None None ASPDH|0.011680011|79.47%

ATP13A1
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 sp16_961 19 rs61752462
dbSNP Clinvar 		19766726 160.989 G A PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.01897 0.01897 0.02656 None None None None None None ATP13A1|0.111550115|48.93%
View sp16_961 19 . 19756283 18.3845 T C PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ATP13A1|0.111550115|48.93%

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 sp16_961 19 rs2217342
dbSNP Clinvar 		42489516 584.235 A C PASS 1/1 62 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 19 rs2733743
dbSNP Clinvar 		36050969 38.3456 A G PASS 1/1 5 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%

ATP5SL
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 sp16_961 19 rs1043413
dbSNP Clinvar 		41939297 102.636 C G PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.50679 0.50680 0.44787 0.04 0.00 None None None None None None ATP5SL|0.004191665|86.74%
View sp16_961 19 rs2231939
dbSNP Clinvar 		41944270 22.7469 T C PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00777 1.00 0.01 None None None None None None ATP5SL|0.004191665|86.74%

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 sp16_961 19 rs3764606
dbSNP Clinvar 		1784944 51.8355 A G PASS 0/1 20 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 sp16_961 19 rs3764605
dbSNP Clinvar 		1784890 41.0941 A G PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.42931 0.42930 0.47886 None None None None None None ATP8B3|0.003576519|87.64%
View sp16_961 19 rs45574836
dbSNP Clinvar 		1806667 156.804 C T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.06190 0.06190 0.03415 0.26 0.01 None None None None None None ATP8B3|0.003576519|87.64%
View sp16_961 19 rs2385387
dbSNP Clinvar 		1783261 200.249 C T PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.30112 0.30110 0.33953 1.81 0.00 0.03522 T None None None None ATP8B3|0.003576519|87.64%
View sp16_961 19 rs12609187
dbSNP Clinvar 		1811547 191.657 A G PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.82967 0.82970 0.14144 None None None None None None ATP8B3|0.003576519|87.64%

AURKC
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 sp16_961 19 rs758097
dbSNP Clinvar 		57742703 260.723 A G PASS 0/1 89 None None None 0.38558 0.38560 0.27997 None None None None None None AURKC|0.010911185|80.15%

AXL
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 sp16_961 19 . 41725372 22.2981 G A PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.43 0.00 None None None None None None AXL|0.122230241|47.08%
View sp16_961 19 rs7249222
dbSNP Clinvar 		41743861 561.669 A G PASS 1/1 59 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 19 rs595844
dbSNP Clinvar 		830854 1646.76 T C PASS 1/1 177 SYNONYMOUS_CODING LOW None 0.66693 0.66690 0.34922 None None None None None None AZU1|0.002495752|89.7%
View sp16_961 19 rs12460890
dbSNP Clinvar 		829568 773.398 C T PASS 1/1 80 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 19 rs36686
dbSNP Clinvar 		17922795 1257.64 G A PASS 1/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.74002 0.74000 0.20360 0.12 0.00 None None None None None None B3GNT3|0.00215134|90.58%

B3GNT8
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 sp16_961 19 rs284662
dbSNP Clinvar 		41932275 118.204 T C PASS 0/1 76 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 sp16_961 19 rs284663
dbSNP Clinvar 		41932612 34.7044 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.61741 0.61740 0.31906 None None None None None None B3GNT8|0.010708534|80.36%
View sp16_961 19 rs284660
dbSNP Clinvar 		41932084 158.893 G T PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.49101 0.49100 0.44879 None None None None None None B3GNT8|0.010708534|80.36%
View sp16_961 19 rs284661
dbSNP Clinvar 		41932120 173.469 C T PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.49082 0.49080 0.44949 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 sp16_961 19 rs2241714
dbSNP Clinvar 		41869392 620.005 T C PASS 1/1 59 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_961 19 rs3810140
dbSNP Clinvar 		45316807 159.481 C T PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.09325 0.09325 0.06249 None None None None None None BCAM|0.011093426|79.98%
View sp16_961 19 rs1135062
dbSNP Clinvar 		45322744 286.634 A G PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.33761 0.57 0.00 None None None None None None BCAM|0.011093426|79.98%
View sp16_961 19 rs3810141
dbSNP Clinvar 		45316804 149.838 C T PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.10004 0.10000 0.07137 None None None None None None BCAM|0.011093426|79.98%