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+ Genes 790

Genes:
A1BG, ABCA7, ABHD17A, ABHD8, AC008686.1, AC010327.2, AC010642.1, AC011475.1, AC012313.1, AC018755.1, AC020907.1, AC020922.1, AC025278.1, AC074212.3, AC090427.1, ACER1, ACPT, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADCK4, AES, AKAP8L, ALDH16A1, AMH, ANGPTL6, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP3D1, APBA3, APC2, APOC4, APOE, ARHGAP33, ARHGEF18, ARID3A, ARMC6, ARRDC5, ATF5, ATG4D, ATP1A3, ATP4A, ATP8B3, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BCAM, BCAT2, BCKDHA, BIRC8, BLOC1S3, BSG, C19orf10, C19orf12, C19orf24, C19orf26, C19orf35, C19orf40, C19orf44, C19orf54, C19orf55, C19orf57, C19orf68, C19orf73, C19orf81, C19orf84, C2CD4C, C3, C5AR1, CA11, CABP5, CACNA1A, CACNG7, CACTIN, CALR, CALR3, CAPN12, CARD8, CATSPERD, CATSPERG, CC2D1A, CCDC105, CCDC106, CCDC114, CCDC130, CCDC151, CCDC155, CCDC159, CCDC61, CCDC8, CCDC94, CCL25, CCNE1, CD177, CD22, CD33, CD37, CD70, CD97, CDC34, CDC37, CDKN2D, CEACAM18, CEACAM21, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEP89, CERS4, CFD, CGB, CGB1, CHAF1A, CHERP, CIB3, CIC, CILP2, CIRBP, CKM, CLASRP, CLC, CLEC4M, CLPTM1, CNN1, CNN2, CNOT3, COL5A3, COLGALT1, COMP, COPE, CPAMD8, CPT1C, CRB3, CREB3L3, CRTC1, CTC-360G5.8, CTD-2368P22.1, CTD-3193O13.9, CYP2A6, CYP2A7, CYP2B6, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DAPK3, DDX49, DENND1C, DHX34, DKFZP761J1410, DKKL1, DMKN, DMPK, DMWD, DNAAF3, DNASE2, DNM2, DNMT1, DOCK6, DOT1L, DPP9, DPY19L3, EBI3, ECH1, EEF2, EHD2, EID2, EID2B, EIF3G, ELAVL1, ELAVL3, ELSPBP1, EMR1, EMR2, EMR3, ERCC2, ETFB, ETHE1, ETV2, EVI5L, EXOSC5, F2RL3, FAM129C, FAM187B, FAM71E2, FAM83E, FBN3, FBXO17, FCAR, FCGBP, FCGRT, FCHO1, FDX1L, FFAR1, FFAR2, FFAR3, FGF21, FIZ1, FKRP, FLT3LG, FOXA3, FPR1, FPR3, FSD1, FSTL3, FTL, FUT2, FUT3, FUT5, FUT6, FXYD3, FXYD5, GADD45B, GALP, GCDH, GDF15, GFY, GIPC1, GIPR, GLTSCR1, GLTSCR2, GNA15, GNG8, GP6, GPATCH1, GPR108, GPX4, GRAMD1A, GRIN2D, GRIN3B, GRWD1, GSK3A, GTPBP3, GYS1, GZMM, HAS1, HAUS5, HAUS8, HCN2, HCST, HDGFRP2, HIF3A, HKR1, HMHA1, HNRNPL, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HRC, HSH2D, HSPBP1, ICAM3, ICAM4, ICAM5, IFI30, IFNL1, IFNL2, IFNL3, IFNL4, IGFL4, IGSF23, IL11, IL4I1, ILVBL, INSL3, INSR, IRF2BP1, IRF3, IRGQ, IZUMO2, JSRP1, KANK2, KANK3, KCNA7, KCNC3, KCNK6, KDM4B, KHSRP, KIAA1683, KIR3DL2, KIR3DX1, KIRREL2, KISS1R, KLC3, KLF1, KLF2, KLHL26, KLK1, KLK10, KLK13, KLK2, KLK3, KLK4, KLK5, KLK7, KLK9, KMT2B, KPTN, KRI1, KXD1, LAIR1, LAIR2, LDLR, LENG8, LENG9, LGALS14, LGALS16, LGI4, LHB, LIG1, LILRA2, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LIN7B, LINGO3, LONP1, LPAR2, LPHN1, LPPR3, LRFN3, LRG1, LRP3, LRRC25, LRRC8E, LSM4, LSR, LTBP4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP2K7, MAP3K10, MARCH2, MARK4, MAST1, MAST3, MAU2, MBD3L1, MBOAT7, MED16, MEX3D, MISP, MLLT1, MOB3A, MPND, MPV17L2, MRPL54, MUC16, MUM1, MVB12A, MYH14, MYO9B, MYPOP, MZF1, NANOS3, NCLN, NCR1, NDUFA11, NDUFA3, NDUFA7, NDUFB7, NDUFS7, NFIC, NFKBID, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOSIP, NOTCH3, NOVA2, NPAS1, NPHS1, NR1H2, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, ODF3L2, OLFM2, OPA3, OR10H1, OR10H2, OR10H3, OR10H5, OR1I1, OR1M1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7G1, OR7G3, OSCAR, OVOL3, PALM, PAPL, PCP2, PCSK4, PDE4A, PDE4C, PEG3, PEX11G, PHLDB3, PIAS4, PIH1D1, PIK3R2, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLEKHA4, PLIN3, PLIN4, PLIN5, PLK5, PNKP, PNPLA6, POLR2E, POLRMT, PPAN-P2RY11, PPAP2C, PPFIA3, PPP1R12C, PPP1R15A, PPP1R37, PPP5D1, PPP6R1, PRAM1, PRKCG, PRKCSH, PRKD2, PRODH2, PRR12, PRRG2, PRSS57, PRTN3, PRX, PSG1, PSG11, PSG3, PSG4, PSG5, PSG7, PSG9, PTBP1, PTGIR, PTOV1, PTPRH, PTPRS, PVR, PVRL2, R3HDM4, RAB11B, RAB3D, RAB8A, RASAL3, RASIP1, RAVER1, RCN3, RDH13, RDH8, REXO1, RFX1, RFX2, RGL3, RGS9BP, RHPN2, RINL, RNF126, RPL28, RPSAP58, RRAS, RTBDN, RUVBL2, RYR1, S1PR2, S1PR4, S1PR5, SAE1, SBK2, SBK3, SBNO2, SCAF1, SCN1B, SDHAF1, SELV, SEMA6B, SERTAD1, SERTAD3, SH3GL1, SHANK1, SHD, SHKBP1, SIGLEC10, SIGLEC12, SIGLEC6, SIGLEC7, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC17A7, SLC1A5, SLC1A6, SLC25A23, SLC27A1, SLC27A5, SLC35E1, SLC39A3, SLC44A2, SMARCA4, SNRNP70, SPIB, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STK11, STRN4, STXBP2, SUGP2, SULT2A1, SUV420H2, SYMPK, SYNE4, SYT3, TARM1, TBC1D17, TBXA2R, TDRD12, TEX101, TGFB1, THEG, TJP3, TLE2, TLE6, TM6SF2, TMEM143, TMEM150B, TMEM160, TMEM161A, TMEM221, TMEM238, TMEM259, TMEM59L, TMEM86B, TMEM91, TMPRSS9, TNFSF14, TNNT1, TOMM40, TPGS1, TPRX1, TRIM28, TRPM4, TSEN34, TSHZ3, TTYH1, TYK2, U2AF2, UBA2, UBA52, UBE2M, UBE2S, UBXN6, UNC13A, UPF1, UPK1A, UQCRFS1, URI1, USE1, USF2, USP29, VN1R2, VN1R4, VSIG10L, VSTM1, WDR18, WDR62, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, YIPF2, ZBTB32, ZBTB45, ZC3H4, ZFP28, ZFR2, ZIK1, ZIM2, ZIM3, ZNF100, ZNF101, ZNF112, ZNF132, ZNF134, ZNF135, ZNF14, ZNF146, ZNF154, ZNF155, ZNF160, ZNF175, ZNF177, ZNF180, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF227, ZNF229, ZNF233, ZNF235, ZNF253, ZNF256, ZNF260, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF304, ZNF320, ZNF324, ZNF331, ZNF333, ZNF350, ZNF382, ZNF383, ZNF404, ZNF414, ZNF415, ZNF418, ZNF429, ZNF432, ZNF440, ZNF441, ZNF442, ZNF443, ZNF444, ZNF446, ZNF45, ZNF460, ZNF468, ZNF470, ZNF471, ZNF480, ZNF490, ZNF493, ZNF506, ZNF507, ZNF524, ZNF525, ZNF529, ZNF530, ZNF534, ZNF536, ZNF543, ZNF544, ZNF548, ZNF549, ZNF551, ZNF552, ZNF554, ZNF555, ZNF556, ZNF557, ZNF559, ZNF561, ZNF564, ZNF566, ZNF567, ZNF568, ZNF57, ZNF571, ZNF573, ZNF578, ZNF581, ZNF583, ZNF584, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF628, ZNF653, ZNF66, ZNF665, ZNF667, ZNF675, ZNF676, ZNF677, ZNF681, ZNF69, ZNF700, ZNF701, ZNF708, ZNF709, ZNF714, ZNF724P, ZNF729, ZNF730, ZNF737, ZNF738, ZNF765, ZNF77, ZNF772, ZNF788, ZNF790, ZNF793, ZNF799, ZNF805, ZNF808, ZNF812, ZNF813, ZNF814, ZNF816, ZNF83, ZNF836, ZNF837, ZNF841, ZNF844, ZNF845, ZNF846, ZNF85, ZNF850, ZNF880, ZNF93, ZNF98, ZNRF4, ZSCAN1, ZSCAN4, ZSCAN5A, ZSCAN5B, ZSCAN5C, ZSCAN5D, ZSWIM4, hsa-mir-150,

+ Genes associated with diseases 117

Genes at Omim

ABCA7, ACPT, ACTN4, ADAMTS10, AMH, AP3D1, APC2, APOE, ARHGEF18, ATP1A3, B9D2, BCAT2, BCKDHA, BLOC1S3, BSG, C19orf12, C3, CACNA1A, CALR, CC2D1A, CCDC114, CCDC151, CCDC8, CFD, CIC, CLEC4M, COLGALT1, COMP, CPAMD8, CPT1C, CRTC1, CYP2A6, CYP2B6, DMPK, DNAAF3, DNM2, DNMT1, DOCK6, EEF2, ERCC2, ETFB, ETHE1, FDX1L, FKRP, FTL, FUT2, FUT3, FUT6, GCDH, GIPR, GP6, GPX4, GRIN2D, GTPBP3, GYS1, ICAM4, IFNL3, INSL3, INSR, IRF3, KANK2, KCNC3, KISS1R, KLF1, KLK1, KLK4, KMT2B, KPTN, LDLR, LGI4, LHB, LONP1, LTBP4, MAG, MAN2B1, MAP2K2, MAST1, MBOAT7, MYH14, MYO9B, NDUFA11, NDUFS7, NLRP12, NOTCH3, NPHS1, NUP62, OPA3, PIK3R2, PIP5K1C, PNKP, PNPLA6, PRKCG, PRKCSH, PRX, RAB11B, RGS9BP, RYR1, S1PR2, SCN1B, SDHAF1, SH3GL1, SIPA1L3, SIX5, SMARCA4, SPTBN4, STK11, STXBP2, SYNE4, TBXA2R, TGFB1, TLE6, 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)
AMH Persistent Mullerian duct syndrome, type I, 261550 (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)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
BLOC1S3 Hermansky-Pudlak syndrome 8, 614077 (3)
BSG [Blood group, OK], 111380 (3)
C19orf12 Neurodegeneration with brain iron accumulation 4, 614298 (3)
?Spastic paraplegia 43, autosomal recessive, 615043 (3)
C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
C3 deficiency, 613779 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CALR Myelofibrosis, somatic, 254450 (3)
Thrombocythemia, somatic, 187950 (3)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC151 Ciliary dyskinesia, primary, 30, 616037 (3)
CCDC8 3-M syndrome 3, 614205 (3)
CFD Complement factor D deficiency, 613912 (3)
CIC Mental retardation, autosomal dominant 45, 617600 (3)
CLEC4M SARS infection, protection against (2)
COLGALT1 Brain small vessel disease 3, 618360 (3)
COMP Epiphyseal dysplasia, multiple, 1, 132400 (3)
Pseudoachondroplasia, 177170 (3)
CPAMD8 Anterior segment dysgenesis 8, 617319 (3)
CPT1C ?Spastic paraplegia 73, autosomal dominant, 616282 (3)
CRTC1 Mucoepidermoid salivary gland carcinoma (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)
DMPK Myotonic dystrophy 1, 160900 (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)
ERCC2 ?Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Xeroderma pigmentosum, group D, 278730 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
ETHE1 Ethylmalonic encephalopathy, 602473 (3)
FDX1L Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3)
FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (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)
GCDH Glutaricaciduria, type I, 231670 (3)
GIPR [Plasma glucose, 2-hour, QTL 2] (2)
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)
ICAM4 [Blood group, Landsteiner-Wiener], 111250 (3)
IFNL3 {Hepatitis C virus infection, response to therapy of}, 609532 (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)
IRF3 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3)
KANK2 Nephrotic syndrome, type 16, 617783 (3)
Palmoplantar keratoderma and woolly hair, 616099 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (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)
LONP1 CODAS syndrome, 600373 (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)
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)
NUP62 Striatonigral degeneration, infantile, 271930 (3)
OPA3 Optic atrophy 3 with cataract, 165300 (3)
3-methylglutaconic aciduria, type III, 258501 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIP5K1C Lethal congenital contractural syndrome 3, 611369 (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)
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)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SIPA1L3 ?Cataract 45, 616851 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SPTBN4 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
STK11 Melanoma, malignant, somatic (3)
Pancreatic cancer, somatic, 260350 (3)
Peutz-Jeghers syndrome, 175200 (3)
Testicular tumor, somatic, 273300 (3)
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
SYNE4 Deafness, autosomal recessive 76, 615540 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TGFB1 Camurati-Engelmann disease, 131300 (3)
Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TLE6 Preimplantation embryonic lethality, 616814 (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, APOE, ATP1A3, B9D2, BCAM, BCKDHA, BLOC1S3, BSG, C3, CACNA1A, CALR3, CC2D1A, CCDC114, CCDC151, CCDC8, CFD, COMP, CPT1C, CYP2A6, CYP2B6, CYP4F2, DMPK, DNM2, DNMT1, DOCK6, ERCC2, ETFB, ETHE1, FKRP, FTL, FUT3, FUT6, GCDH, GP6, GPX4, GTPBP3, GYS1, ICAM4, IFNL3, INSL3, INSR, IRF3, KANK2, KCNC3, KISS1R, KLF1, KLK4, KPTN, LDLR, LHB, LONP1, LTBP4, MAG, MAN2B1, MAP2K2, MYH14, NDUFA11, NDUFS7, NLRP12, NLRP7, NOTCH3, NPHS1, NUP62, OPA3, PIK3R2, PIP5K1C, PNKP, PNPLA6, PRKCG, PRKCSH, PRX, RGS9BP, RYR1, S1PR2, SCN1B, SDHAF1, SIPA1L3, SIX5, SMARCA4, STK11, STXBP2, SYNE4, TBXA2R, TGFB1, TLE6, 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
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
BCKDHA Maple syrup urine disease, type Ia
BLOC1S3 Hermansky-Pudlak syndrome 8
BSG Blood group, OK
C3 Complement component 3 deficiency, autosomal recessive
Hemolytic uremic syndrome, atypical, susceptibility to, 5
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CALR3 Cardiomyopathy, familial hypertrophic, 19
CC2D1A Mental retardation, autosomal recessive 3
CCDC114 Ciliary dyskinesia, primary, 20
CCDC151 Ciliary dyskinesia, primary,30
CCDC8 Three M syndrome 3
CFD Complement factor D deficiency
COMP Pseudoachondroplasia
Multiple ephiphyseal dysplasia
CPT1C Spastic paraplegia 73, autosomal dominant
CYP2A6 CYP2A6-related drug metabolism
CYP2B6 Efavirenz, poor metabolism of
CYP4F2 Warfarin metabolism
DMPK Myotonic dystrophy 1
DNM2 Charcot-Marie-Tooth disease, dominant intermediate B
Charcot-Marie-Tooth disease, axonal, type 2M
Myopathy, centronuclear
Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive
DNMT1 Neuropathy, hereditary sensory, type IE
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
DOCK6 Adams-Oliver syndrome 2
ERCC2 Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
ETFB Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
ETHE1 Ethylmalonic encephalopathy
FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
FTL L-ferritin deficiency
Neurodegeneration with brain iron accumulation 3
Hyperferritinemia-cataract syndrome
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
GCDH Glutaric aciduria, type I
GP6 Bleeding disorder, platelet-type, 11
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GTPBP3 Combined oxidative phosphorylation deficiency 23
GYS1 Glycogen storage disease, type 0, muscle
ICAM4 Blood group, Landsteiner-Wiener
IFNL3 Drug metabolism, IL28B-related
INSL3 Cryptorchidism
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
IRF3 Herpes simplex encephalitis, susceptibility to, 7
KANK2 Palmoplantar keratoderma and woolly hair
KCNC3 Spinocerebellar ataxia 13
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
LONP1 Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAG Spastic paraplegia, autosomal recessive 75
MAN2B1 Mannosidosis, alpha B, lysosomal
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
NUP62 Striatonigral degeneration, infantile
OPA3 3-methylglutaconic aciduria, type III
Optic atrophy 3, autosomal dominant
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PNKP Ataxia-oculomotor apraxia-4
Epileptic encephalopathy, early infantile, 10
PNPLA6 Boucher-Neuhauser syndrome
Laurence-Moon syndrome
Oliver-McFarlane syndrome
PRKCG Spinocerebellar ataxia 14
PRKCSH Polycystic liver disease
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
RGS9BP Bradyopsia
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
SMARCA4 Rhabdoid tumor predisposition syndrome 2
STK11 Peutz-Jeghers syndrome
STXBP2 Hemophagocytic lymphohistiocytosis, familial 5
SYNE4 Deafness, autosomal recessive, 76
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TGFB1 Camurati-Engelmann disease
TLE6 Preimplantation embryonic lethality
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: 13034
Number of Genes: 790

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  • Page 1 of 131

A1BG
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 snps raw-variants selected 19 rs893184
dbSNP Clinvar 		58864479 4620.77 T C PASS 1/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.84844 0.84840 0.10849 0.91 0.00 -0.13 None None None None None None A1BG|0.00221541|90.38%

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 snps raw-variants selected 19 rs3764645
dbSNP Clinvar 		1042809 2795.77 A G PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.39956 0.39960 0.38867 0.48 0.04 0.62 None None None None None None ABCA7|0.007770288|82.8%
View snps raw-variants selected 19 rs3752234
dbSNP Clinvar 		1047002 5150.77 A G PASS 1/1 159 SYNONYMOUS_CODING LOW None 0.57887 0.57890 0.46635 None None None None None None ABCA7|0.007770288|82.8%
View snps raw-variants selected 19 rs3752237
dbSNP Clinvar 		1047161 5783.77 A G PASS 1/1 172 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.37591 None None None None None None ABCA7|0.007770288|82.8%
View snps raw-variants selected 19 rs4147915
dbSNP Clinvar 		1049305 539.77 C A PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.19988 0.19990 0.13185 None None None None None None ABCA7|0.007770288|82.8%
View snps raw-variants selected 19 rs3752240
dbSNP Clinvar 		1051214 1645.77 A G PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.28914 0.28910 0.36546 None None None None None None ABCA7|0.007770288|82.8%
View snps raw-variants selected 19 rs3764652
dbSNP Clinvar 		1052005 871.77 C T PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.37939 0.37940 0.40154 None None None None None None ABCA7|0.007770288|82.8%
View snps raw-variants selected 19 rs3752243
dbSNP Clinvar 		1054060 2781.77 A G PASS 0/1 198 SYNONYMOUS_CODING LOW None 0.53614 0.53610 0.47355 None None None None None None ABCA7|0.007770288|82.8%
View snps raw-variants selected 19 rs3745842
dbSNP Clinvar 		1055191 729.77 G A PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.39058 0.39060 0.40647 0.54 0.00 -0.16 None None None None None None ABCA7|0.007770288|82.8%
View snps raw-variants selected 19 rs881768
dbSNP Clinvar 		1056065 1457.77 A G PASS 0/1 91 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44209 0.44210 0.45937 None None None None None None ABCA7|0.007770288|82.8%
View snps raw-variants selected 19 rs3752246
dbSNP Clinvar 		1056492 6713.77 G C PASS 1/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.82548 0.82550 0.12788 1.00 0.00 -1.16 None None None None None None ABCA7|0.007770288|82.8%
View snps raw-variants selected 19 rs4147930
dbSNP Clinvar 		1064193 1577.77 G A PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.60643 0.60640 0.29566 None None None None None None ABCA7|0.007770288|82.8%
View snps raw-variants selected 19 rs4147934
dbSNP Clinvar 		1065018 2386.77 G T PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.60503 0.60500 0.25026 0.88 0.03 -1.19 None None None None None None ABCA7|0.007770288|82.8%
View snps raw-variants selected 19 rs4147935
dbSNP Clinvar 		1065044 1474.77 C T PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.26141 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 snps raw-variants selected 19 rs4807160
dbSNP Clinvar 		1880950 1537.77 T C PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.63099 0.63100 0.36662 1.00 0.00 -2.03 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 snps raw-variants selected 19 rs11086066
dbSNP Clinvar 		17412366 895.77 G A PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.23702 0.23700 0.24633 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%
View snps raw-variants selected 19 rs11086067
dbSNP Clinvar 		17412399 727.77 G A PASS 0/1 71 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%

AC008686.1
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 snps raw-variants selected 19 rs536638867
dbSNP Clinvar 		13899041 790.73 CT... C,... PASS 1/2 39 CODON_DELETION MODERATE None 0.42113 0.42110 None None None None None None None
View snps raw-variants selected 19 rs62111900
dbSNP Clinvar 		13900059 415.77 A G PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.14637 0.14640 None None None None None None None

AC010327.2
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 snps raw-variants selected 19 rs4337407
dbSNP Clinvar 		55739340 142.9 A G PASS 1/1 6 SYNONYMOUS_CODING LOW None 0.77796 0.77800 None None None None None None TMEM86B|0.001127619|94.8%

AC010642.1
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 snps raw-variants selected 19 rs374431
dbSNP Clinvar 		58790713 2053.77 G C PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.60623 0.60620 0.00 0.00 None None None None None None ZNF8|0.004857832|86%
View snps raw-variants selected 19 rs437229
dbSNP Clinvar 		58790675 2260.77 T C PASS 0/1 181 SYNONYMOUS_CODING LOW None 0.64477 0.64480 None None None None None None ZNF8|0.004857832|86%
View snps raw-variants selected 19 rs260501
dbSNP Clinvar 		58790807 1173.77 T G PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.60663 0.60660 None None None None None None ZNF8|0.004857832|86%

AC011475.1
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 snps raw-variants selected 19 rs768759975
dbSNP Clinvar 		10752080 274.73 C CA PASS 0/1 34 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None SLC44A2|0.089283422|53.39%

AC012313.1
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 snps raw-variants selected 19 rs13343526
dbSNP Clinvar 		58908150 1790.77 C G PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.85503 0.85500 1.00 0.00 -0.93 None None None None None None None

AC018755.1
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 snps raw-variants selected 19 rs58301181
dbSNP Clinvar 		52097261 3027.77 C G PASS 0/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.09265 0.09265 0.02 None None None None None None None
View snps raw-variants selected 19 rs35740364
dbSNP Clinvar 		52097401 2779.77 T C PASS 0/1 200 SYNONYMOUS_CODING LOW None 0.16913 0.16910 None None None None None None None
View snps raw-variants selected 19 rs141848717
dbSNP Clinvar 		52097560 1762.73 G GA PASS 0/1 200 FRAME_SHIFT HIGH None 0.08746 0.08746 None None None None None None None

AC020907.1
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 snps raw-variants selected 19 rs10424084
dbSNP Clinvar 		35597462 2474.77 A G PASS 0/1 177 NON_SYNONYMOUS_CODING MODERATE None 0.48742 0.48740 0.63 0.00 None None None None None None None
View snps raw-variants selected 19 rs7258700
dbSNP Clinvar 		35597729 1927.77 C T PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.48363 0.48360 1.00 0.00 None None None None None None None
View snps raw-variants selected 19 rs10423723
dbSNP Clinvar 		35597620 2535.77 C T PASS 0/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.48722 0.48720 0.07 0.00 None None None None None None None
View snps raw-variants selected 19 rs2445826
dbSNP Clinvar 		35597352 3754.77 T C PASS 1/1 107 SYNONYMOUS_CODING LOW None 0.99101 0.99100 None None None None None None None

AC020922.1
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 snps raw-variants selected 19 rs10405231
dbSNP Clinvar 		55856211 2057.77 C T PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.49241 0.49240 0.40018 None None None None None None SUV420H2|0.012688919|78.75%

AC025278.1
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 snps raw-variants selected 19 rs114601404
dbSNP Clinvar 		7011858 285.77 C G PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.15216 0.15220 None None None None None None None
View snps raw-variants selected 19 rs7249689
dbSNP Clinvar 		7011860 296.77 G C PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.15216 0.15220 1.00 0.00 None None None None None None None
View snps raw-variants selected 19 rs113730497
dbSNP Clinvar 		7011876 398.73 GT G PASS 0/1 46 FRAME_SHIFT HIGH None 0.15216 0.15220 None None None None None None None
View snps raw-variants selected 19 rs546207896
dbSNP Clinvar 		7011878 320.77 C A PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.15216 0.15220 0.04 0.01 None None None None None None None
View snps raw-variants selected 19 rs7254322
dbSNP Clinvar 		7011826 206.77 T C PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.15455 0.15460 0.92 0.79 None None None None None None None

AC074212.3
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 snps raw-variants selected 19 rs77185077
dbSNP Clinvar 		46259293 687.77 G A PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.02077 0.02077 0.11 0.55 1.76 None None None None None None None
View snps raw-variants selected 19 rs139434566
dbSNP Clinvar 		46265047 3626.73 A AT... PASS 1/1 64 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None None
View snps raw-variants selected 19 rs76618306
dbSNP Clinvar 		46265222 244.77 C T PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.00839 0.00839 0.22 0.00 -0.24 None None None None None None None
View snps raw-variants selected 19 rs8112282
dbSNP Clinvar 		46265029 2498.77 C T PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.53674 0.53670 None None None None None None None

AC090427.1
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 snps raw-variants selected 19 rs8106309
dbSNP Clinvar 		14834842 126.77 C G PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.81350 0.81350 0.06 0.00 None None None None None None ZNF333|0.001391324|93.38%

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 snps raw-variants selected 19 rs72981971
dbSNP Clinvar 		6312290 1783.77 T C PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.15994 0.15990 0.09519 0.82 0.02 -0.09 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 snps raw-variants selected 19 rs2162784
dbSNP Clinvar 		51293955 296.77 G A PASS 0/1 22 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09964 0.09964 0.08964 None None None None None None ACPT|0.016239372|76.31%

ACSBG2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 19 rs4807840
dbSNP Clinvar 		6156483 2800.77 T C PASS 0/1 194 NON_SYNONYMOUS_CODING MODERATE None 0.71206 0.71210 0.29994 1.00 0.00 -0.15 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 snps raw-variants selected 19 rs10410943
dbSNP Clinvar 		8808900 3179.76 A G PASS 1/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.79173 0.79170 0.27926 1.00 0.00 None None None None None None ACTL9|0.004666462|86.26%
View snps raw-variants selected 19 rs2340550
dbSNP Clinvar 		8808942 3362.77 A G PASS 1/1 98 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 snps raw-variants selected 19 rs4804079
dbSNP Clinvar 		8808373 3259.77 G T PASS 0/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.60004 0.60000 0.47201 0.51 0.87 None None None None None None ACTL9|0.004666462|86.26%

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 snps raw-variants selected 19 rs1136956
dbSNP Clinvar 		39219780 1614.77 T C PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.18750 0.18750 0.21375 None None None None None None ACTN4|0.387377198|21.58%
View snps raw-variants selected 19 rs11553600
dbSNP Clinvar 		39196736 1203.77 G A PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.11542 0.11540 0.15316 None None None None None None ACTN4|0.387377198|21.58%
View snps raw-variants selected 19 rs3745859
dbSNP Clinvar 		39196745 1853.77 C T PASS 0/1 110 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33926 0.33930 0.39236 None None None None None None ACTN4|0.387377198|21.58%

ADAMTS10
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 snps raw-variants selected 19 rs7252299
dbSNP Clinvar 		8645786 1092.77 A C PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00015 1.00 0.00 0.36 None None None None None None ADAMTS10|0.099701531|51.23%
View snps raw-variants selected 19 rs7255721
dbSNP Clinvar 		8669931 2790.77 G C PASS 0/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.89397 0.89400 0.21830 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%

ADAMTSL5
Omim - GeneCards - NCBI
Options Individual Chr
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 19 rs265291
dbSNP Clinvar 		1510661 1291.77 A G PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.93570 0.93570 0.06900 None None None None None None ADAMTSL5|0.011039552|80.05%

ADCK4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 19 rs11673492
dbSNP Clinvar 		41220529 2435.77 C T PASS 0/1 167 SYNONYMOUS_CODING LOW None 0.09924 0.09924 0.17146 None None None None None None ADCK4|0.043749388|64.59%
View snps raw-variants selected 19 rs3865452
dbSNP Clinvar 		41211056 937.77 T C PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.47744 0.47740 0.45248 0.53 0.00 -0.27 None None None None None None ADCK4|0.043749388|64.59%

AES
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 snps raw-variants selected 19 rs567830569
dbSNP Clinvar 		3062786 418.77 C G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00 0.00 4.67 0.17 0.84988 D None None None None AES|0.064359463|58.79%
View snps raw-variants selected 19 rs11539938
dbSNP Clinvar 		3062857 606.77 T C PASS 0/1 42 SYNONYMOUS_CODING LOW None 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
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 19 rs2058322
dbSNP Clinvar 		15508362 1988.77 G C PASS 1/1 55 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 snps raw-variants selected 19 rs140236782
dbSNP Clinvar 		49964113 1845.77 C T PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None ALDH16A1|0.021103617|73.62%
View snps raw-variants selected 19 rs7259560
dbSNP Clinvar 		49965173 1941.77 A T PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.30092 0.30090 0.32176 None None None None None None ALDH16A1|0.021103617|73.62%
View snps raw-variants selected 19 rs1320303
dbSNP Clinvar 		49964977 2526.77 C G PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.51018 0.51020 0.34881 1.00 0.00 -2.25 None None None None None None ALDH16A1|0.021103617|73.62%
View snps raw-variants selected 19 rs2293009
dbSNP Clinvar 		49967680 4015.77 G A PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.31150 0.31150 0.32921 None None None None None None ALDH16A1|0.021103617|73.62%

AMH
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 snps raw-variants selected 19 rs10407022
dbSNP Clinvar 		2249477 1214.77 G T PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.67592 0.67590 0.26055 0.00 0.37 1.77 None None None None None None AMH|0.062219269|59.26%
View snps raw-variants selected 19 rs7252789
dbSNP Clinvar 		2251512 1272.77 T A PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.91893 0.91890 None None None None None None AMH|0.062219269|59.26%
View snps raw-variants selected 19 rs10417628
dbSNP Clinvar 		2251817 7340.77 T C PASS 1/1 199 NON_SYNONYMOUS_CODING MODERATE None 0.99002 0.99000 0.01798 0.77 0.00 0.79 None None None None None None AMH|0.062219269|59.26%
View snps raw-variants selected 19 rs17854573
dbSNP Clinvar 		2250469 867.77 G A PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.08446 0.08446 0.03417 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 snps raw-variants selected 19 rs766939433
dbSNP Clinvar 		10206701 1513.77 C T PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.52 5.77 0.02 0.4568 T None None None None 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 snps raw-variants selected 19 rs8100241
dbSNP Clinvar 		17392894 1964.77 G A PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.42732 0.42730 0.43512 0.01 0.88 4.74 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View snps raw-variants selected 19 rs8108174
dbSNP Clinvar 		17393530 942.77 T A PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.46066 0.46070 0.43206 0.01 1.00 5.39 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View snps raw-variants selected 19 rs2363956
dbSNP Clinvar 		17394124 5471.77 T G PASS 1/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.46066 0.46070 0.48747 0.03 1.00 3.31 None None None None None None ANKLE1|0.002494569|89.7%
View snps raw-variants selected 19 rs891017
dbSNP Clinvar 		17394504 6884.77 A C PASS 1/1 200 NON_SYNONYMOUS_CODING MODERATE None 0.63538 0.63540 0.19952 0.48 0.00 -0.45 None None None None None None ANKLE1|0.002494569|89.7%
View snps raw-variants selected 19 rs11086065
dbSNP Clinvar 		17395003 4824.77 A G PASS 1/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.63518 0.63520 0.19914 1.00 0.00 -2.01 None None None None None None ANKLE1|0.002494569|89.7%
View snps raw-variants selected 19 rs1864116
dbSNP Clinvar 		17393015 881.77 C T PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.63538 0.63540 0.13051 0.21 0.02 2.02 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View snps raw-variants selected 19 rs1864113
dbSNP Clinvar 		17393504 995.77 G C PASS 1/1 30 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 snps raw-variants selected 19 rs11882562
dbSNP Clinvar 		17395055 4285.77 C G PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19922 None None None None None None ANKLE1|0.002494569|89.7%
View snps raw-variants selected 19 rs751599
dbSNP Clinvar 		17396549 3260.77 T C PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19937 None None None None None None ANKLE1|0.002494569|89.7%
View snps raw-variants selected 19 rs1465581
dbSNP Clinvar 		17397481 666.77 G T PASS 0/1 65 None None None 0.01 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 snps raw-variants selected 19 rs1963331
dbSNP Clinvar 		4198154 496.77 C T PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.31689 0.31690 None None None None None None ANKRD24|0.006993334|83.48%
View snps raw-variants selected 19 rs2052191
dbSNP Clinvar 		4200156 2286.77 G A PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.40635 0.40630 0.45356 1.00 0.00 -0.49 None None None None None None ANKRD24|0.006993334|83.48%
View snps raw-variants selected 19 rs12978469
dbSNP Clinvar 		4210356 2403.77 G A PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.61282 0.61280 0.37995 0.11 0.01 3.63 None None None None None None ANKRD24|0.006993334|83.48%
View snps raw-variants selected 19 rs150106684
dbSNP Clinvar 		4217576 130.77 G C PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.01577 0.01577 0.06 0.66 3.21 None None None None None None ANKRD24|0.006993334|83.48%
View snps raw-variants selected 19 rs10413818
dbSNP Clinvar 		4216910 2974.77 G A PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.71166 0.71170 0.27616 0.11 0.00 0.19 None None None None None None ANKRD24|0.006993334|83.48%
View snps raw-variants selected 19 rs353693
dbSNP Clinvar 		4217207 3112.77 T G PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.97504 0.97500 0.05681 1.00 0.00 -1.30 None None None None None None ANKRD24|0.006993334|83.48%
View snps raw-variants selected 19 rs58333777
dbSNP Clinvar 		4217587 347.77 G A PASS 1/1 12 SYNONYMOUS_CODING LOW None 0.33387 0.33390 None None None None None None ANKRD24|0.006993334|83.48%
View snps raw-variants selected 19 rs6510794
dbSNP Clinvar 		4217956 553.77 A G PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.45048 0.45050 0.37911 None None None None None None ANKRD24|0.006993334|83.48%

ANKRD27
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 19 rs7247420
dbSNP Clinvar 		33096786 656.77 G A PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.23463 0.23460 0.18653 None None None None None None ANKRD27|0.115031878|48.32%
View snps raw-variants selected 19 rs7248273
dbSNP Clinvar 		33096816 769.77 C T PASS 0/1 51 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.18151 0.18150 0.15424 None None None None None None ANKRD27|0.115031878|48.32%
View snps raw-variants selected 19 rs2302970
dbSNP Clinvar 		33098632 910.77 G C PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.26518 0.26520 0.41619 0.79 0.01 1.50 None None None None None None ANKRD27|0.115031878|48.32%
View snps raw-variants selected 19 rs405858
dbSNP Clinvar 		33106621 3273.77 C T PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.48083 0.48080 0.38974 None None None None None None ANKRD27|0.115031878|48.32%
View snps raw-variants selected 19 rs6510271
dbSNP Clinvar 		33117666 1526.77 T C PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.65196 0.65200 0.34084 None None None None None None ANKRD27|0.115031878|48.32%
View snps raw-variants selected 19 rs2287669
dbSNP Clinvar 		33110204 1135.77 T C PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.46026 0.46030 0.44710 0.22 0.08 -0.29 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 snps raw-variants selected 19 rs755123
dbSNP Clinvar 		17435884 2787.77 T C PASS 0/1 197 SYNONYMOUS_CODING LOW None 0.61881 0.61880 0.24758 None None None None None None ANO8|0.037387399|66.65%
View snps raw-variants selected 19 rs56286266
dbSNP Clinvar 		17435887 2883.77 C T PASS 0/1 197 SYNONYMOUS_CODING LOW None 0.24621 0.24620 0.27157 None None None None None None ANO8|0.037387399|66.65%
View snps raw-variants selected 19 rs8102944
dbSNP Clinvar 		17438642 2656.77 A G PASS 0/1 199 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View snps raw-variants selected 19 rs3752797
dbSNP Clinvar 		16339715 2172.77 C T PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.45208 0.45210 0.44187 None None None None None None AP1M1|0.058029862|60.39%

AP1M2
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 snps raw-variants selected 19 rs1045361
dbSNP Clinvar 		10692000 3104.77 T C PASS 0/1 200 SYNONYMOUS_CODING LOW None 0.37260 0.37260 0.20816 None None None None None None AP1M2|0.078128475|55.65%
View snps raw-variants selected 19 rs11542916
dbSNP Clinvar 		10694720 1074.77 G A PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.02396 0.02396 0.04225 None None None None None None AP1M2|0.078128475|55.65%

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 snps raw-variants selected 19 rs2074960
dbSNP Clinvar 		2116649 2085.77 A G PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.16334 0.16330 0.17480 None None None None None None AP3D1|0.055098943|61.17%
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