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+ Genes 773

Genes:
A1BG, ABCA7, AC004076.9, AC006116.20, AC006486.1, AC008686.1, AC010642.1, AC011500.1, AC012313.1, AC018755.1, AC020907.1, AC020922.1, AC024592.12, AC025278.1, AC074212.3, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADCK4, AES, AKAP8, AKAP8L, ALDH16A1, AMH, ANGPTL4, ANGPTL6, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP2S1, AP3D1, APBA3, APC2, APOC4, APOE, ARHGAP33, ARHGEF18, ARID3A, ARMC6, ASPDH, ATF5, ATG4D, ATP1A3, ATP4A, ATP5SL, ATP8B3, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BABAM1, BCAM, BCAT2, BCKDHA, BIRC8, BLOC1S3, BLVRB, BRD4, BSG, BTBD2, C19orf10, C19orf12, C19orf24, C19orf25, C19orf26, C19orf40, C19orf45, C19orf53, C19orf54, C19orf55, C19orf57, C19orf68, C19orf73, C19orf81, C19orf84, C2CD4C, C3, C5AR1, CA11, CABP5, CACNA1A, CACTIN, CALR, CALR3, CAPN12, CAPS, CARD8, CATSPERG, CBLC, CC2D1A, CCDC105, CCDC106, CCDC114, CCDC124, CCDC130, CCDC155, CCDC159, CCDC61, CCDC9, CCL25, CD177, CD320, CD33, CD37, CDKN2D, CEACAM18, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEBPA, CELF5, CEP89, CERS1, CERS4, CGB1, CGB2, CHAF1A, CHERP, CIB3, CIC, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC4G, CLPTM1, CNN2, CNOT3, COL5A3, COLGALT1, CPAMD8, CRB3, CRTC1, CTB-129P6.11, CTB-133G6.1, CTD-3193O13.9, CYP2A6, CYP2A7, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DCAF15, DENND1C, DHX34, DKKL1, DLL3, DMKN, DMRTC2, DMWD, DNAAF3, DNAJB1, DNASE2, DNMT1, DOCK6, DOT1L, DPF1, DPY19L3, ECH1, EEF2, EGLN2, EHD2, EID2B, EIF3G, ELAVL3, ELSPBP1, EMC10, EML2, EMR1, EMR2, EMR3, EPS8L1, ERCC2, ERVV-2, ETFB, ETV2, EVI5L, EXOSC5, FAM129C, FAM187B, FAM71E2, FAM83E, FBN3, FBXO17, FCAR, FCGBP, FCHO1, FDX1L, FFAR1, FFAR3, FGF21, FGF22, FIZ1, FKRP, FLT3LG, FOXA3, FPR1, FPR3, FSD1, FSTL3, FTL, FUT2, FUT3, FUT5, FUZ, FXYD3, FXYD5, GADD45B, GALP, GDF1, GDF15, GFY, GIPC1, GIPC3, GIPR, GLTSCR1, GLTSCR2, GNA11, GNA15, GNG8, GP6, GPATCH1, GPR108, GPX4, GRIN2D, GRIN3B, GRWD1, GSK3A, GTF2F1, GTPBP3, GYS1, GZMM, HAS1, HAUS8, HCN2, HDGFRP2, HIF3A, HKR1, HMG20B, HMHA1, HNRNPM, HNRNPUL1, HOMER3, HRC, HSH2D, HSPBP1, ICAM3, IFNL1, IFNL3, IFNL4, IGSF23, IL11, IL27RA, IL4I1, ILF3, ILVBL, INSL3, INSR, IRF3, IRGC, IRGQ, ITPKC, IZUMO2, JAK3, JSRP1, KANK3, KCNC3, KCNN4, KDM4B, KEAP1, KHSRP, KIAA1683, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, KIRREL2, KISS1R, KLF1, KLF16, KLF2, KLK10, KLK12, KLK13, KLK14, KLK3, KLK4, KLK5, KLK7, KLK9, KMT2B, KPTN, KRI1, KXD1, LAIR1, LAIR2, LDLR, LENG9, LGALS14, LGALS16, LGI4, LIG1, LILRA2, LILRA3, LILRA4, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LINGO3, LPAR2, LPPR3, LRFN1, LRP3, LRRC25, LRRC4B, LRRC8E, LSM4, LSR, LTBP4, LYPD4, LYPD5, MAMSTR, MAP1S, MAP3K10, MARK4, MAST1, MAST3, MAU2, MBD3L1, MBD3L3, MBD3L5, MBOAT7, MCOLN1, MED16, MEGF8, MFSD12, MIA, MIDN, MIER2, MLLT1, MOB3A, MPND, MRPL54, MUC16, MUM1, MVB12A, MYBPC2, MYH14, MYO9B, MYPOP, MZF1, NACC1, NANOS3, NAPSA, NAT14, NCR1, NDUFA11, NDUFA3, NDUFS7, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOSIP, NOTCH3, NOVA2, NPHS1, NR1H2, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, OCEL1, OLFM2, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, OR7D4, OR7E24, OR7G2, OSCAR, OVOL3, PALM, PALM3, PAPL, PCSK4, PDE4A, PDE4C, PEG3, PGLS, PGLYRP2, PGPEP1, PHLDB3, PIAS4, PIH1D1, PIK3R2, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLEKHG2, PLIN3, PLIN4, PLIN5, PLK5, PNMAL1, PNMAL2, PNPLA6, POLR2E, POLRMT, PPAN-P2RY11, PPFIA3, PPP5C, PRAM1, PRKCG, PRKCSH, PRKD2, PRODH2, PRR12, PRR24, PRRG2, PRSS57, PRTN3, PRX, PSG4, PSG5, PSG6, PSG7, PSG9, PTBP1, PTGER1, PTGIR, PTOV1, PTPRH, PTPRS, PVR, PVRL2, RAB3A, RAB8A, RASGRP4, RASIP1, RAVER1, RDH13, RDH8, REXO1, RFPL4A, RFPL4AL1, RFX1, RGL3, RGS9BP, RHPN2, RNASEH2A, RPL28, RPS15, RPS16, RPS5, RPS9, RPSAP58, RRAS, RSPH6A, RTBDN, RTN2, RUVBL2, RYR1, S1PR2, S1PR5, SAE1, SARS2, SBK2, SBK3, SBNO2, SCAF1, SDHAF1, SELV, SERTAD1, SH2D3A, SHANK1, SHD, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC1A6, SLC27A1, SLC27A5, SLC35E1, SLC39A3, SLC44A2, SLC5A5, SLC6A16, SLC7A9, SMARCA4, SNAPC2, SNRNP70, SNRPA, SPC24, SPHK2, SPIB, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STXBP2, SUGP2, SULT2A1, SULT2B1, SUPT5H, SYDE1, SYMPK, SYNE4, SYT3, TBC1D17, TBXA2R, TCF3, TDRD12, TEX101, TGFB1, THAP8, THEG, TICAM1, TIMM44, TIMM50, TJP3, TMC4, TMEM143, TMEM160, TMEM161A, TMEM221, TMEM238, TMEM259, TMEM86B, TMEM91, TMPRSS9, TNFSF14, TNNT1, TOMM40, TPRX1, TRIM28, TSEN34, TSHZ3, TUBB4A, TYK2, U2AF2, UBA2, UBA52, UBE2M, UBE2S, UBXN6, UNC13A, UPF1, UQCRFS1, URI1, USE1, USF2, USHBP1, USP29, VAV1, VN1R2, VN1R4, VSIG10L, VSTM1, WDR18, WDR62, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, ZBTB45, ZC3H4, ZFP28, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF101, ZNF132, ZNF134, ZNF135, ZNF14, ZNF146, ZNF154, ZNF155, ZNF17, ZNF177, ZNF180, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF229, ZNF234, ZNF256, ZNF257, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF304, ZNF320, ZNF324, ZNF331, ZNF333, ZNF347, ZNF358, ZNF382, ZNF404, ZNF414, ZNF415, ZNF417, ZNF429, ZNF432, ZNF44, ZNF440, ZNF441, ZNF443, ZNF446, ZNF45, ZNF468, ZNF470, ZNF471, ZNF480, ZNF492, ZNF493, ZNF507, ZNF524, ZNF525, ZNF528, ZNF530, ZNF534, ZNF541, ZNF543, ZNF544, ZNF548, ZNF549, ZNF550, ZNF552, ZNF554, ZNF555, ZNF559, ZNF560, ZNF566, ZNF567, ZNF568, ZNF57, ZNF573, ZNF577, ZNF578, ZNF579, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF614, ZNF625, ZNF626, ZNF628, ZNF653, ZNF66, ZNF665, ZNF667, ZNF675, ZNF676, ZNF677, ZNF681, ZNF700, ZNF708, ZNF714, ZNF724P, ZNF729, ZNF730, ZNF737, ZNF738, ZNF749, ZNF765, ZNF77, ZNF773, ZNF776, ZNF781, ZNF787, ZNF788, ZNF792, ZNF793, ZNF799, ZNF805, ZNF812, ZNF813, ZNF814, ZNF816, ZNF83, ZNF835, ZNF836, ZNF837, ZNF844, ZNF845, ZNF846, ZNF850, ZNF91, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5B, ZSCAN5D, hsa-mir-1199, hsa-mir-150,

+ Genes associated with diseases 118

Genes at Omim

ABCA7, ACTN4, ADAMTS10, ADAT3, AMH, ANGPTL4, AP2S1, AP3D1, APC2, APOE, ARHGEF18, ATP1A3, B9D2, BCAT2, BCKDHA, BLOC1S3, BSG, C19orf12, C3, CACNA1A, CALR, CC2D1A, CCDC114, CD320, CEBPA, CERS1, CIC, COLGALT1, CPAMD8, CRTC1, CYP2A6, DLL3, DNAAF3, DNMT1, DOCK6, EEF2, ERCC2, ETFB, FDX1L, FKRP, FTL, FUT2, FUT3, FUZ, GDF1, GIPC3, GIPR, GNA11, GP6, GPX4, GRIN2D, GTPBP3, GYS1, IFNL3, INSL3, INSR, IRF3, ITPKC, JAK3, KCNC3, KCNN4, KIR3DL1, KISS1R, KLF1, KLK4, KMT2B, KPTN, LDLR, LGI4, LTBP4, MAST1, MBOAT7, MCOLN1, MEGF8, MYH14, MYO9B, NACC1, NDUFA11, NDUFS7, NLRP12, NOTCH3, NPHS1, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, PRKCG, PRKCSH, PRX, RGS9BP, RNASEH2A, RTN2, RYR1, S1PR2, SARS2, SDHAF1, SIPA1L3, SIX5, SLC5A5, SLC7A9, SMARCA4, SPTBN4, STXBP2, SULT2B1, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TIMM50, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, XRCC1,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
ADAT3 Mental retardation, autosomal recessive 36, 615286 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
AP2S1 Hypocalciuric hypercalcemia, type III, 600740 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
APC2 ?Sotos syndrome 3, 617169 (3)
APOE Alzheimer disease-2, 104310 (3)
Hyperlipoproteinemia, type III, 617347 (3)
Lipoprotein glomerulopathy, 611771 (3)
Sea-blue histiocyte disease, 269600 (3)
{?Macular degeneration, age-related}, 603075 (3)
{Coronary artery disease, severe, susceptibility to}, 617347 (3)
ARHGEF18 Retinitis pigmentosa 78, 617433 (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
B9D2 Joubert syndrome 34, 614175 (3)
?Meckel syndrome 10, 614175 (3)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
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)
CD320 Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3)
CEBPA Leukemia, acute myeloid, somatic, 601626 (3)
?Leukemia, acute myeloid, 601626 (3)
CERS1 ?Epilepsy, progressive myoclonic, 8, 616230 (3)
CIC Mental retardation, autosomal dominant 45, 617600 (3)
COLGALT1 Brain small vessel disease 3, 618360 (3)
CPAMD8 Anterior segment dysgenesis 8, 617319 (3)
CRTC1 Mucoepidermoid salivary gland carcinoma (3)
CYP2A6 {Lung cancer, resistance to}, 211980 (3)
Coumarin resistance, 122700 (3)
{Nicotine addiction, protection from}, 188890 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DOCK6 Adams-Oliver syndrome 2, 614219 (3)
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)
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)
FUZ {Neural tube defects, susceptibility to}, 182940 (3)
GDF1 Congenital heart defects, multiple types, 6, 613854 (3)
Right atrial isomerism (Ivemark), 208530 (3)
GIPC3 Deafness, autosomal recessive 15, 601869 (3)
GIPR [Plasma glucose, 2-hour, QTL 2] (2)
GNA11 Hypocalcemia, autosomal dominant 2, 615361 (3)
Hypocalciuric hypercalcemia, type II, 145981 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRIN2D Epileptic encephalopathy, early infantile, 46, 617162 (3)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
GYS1 Glycogen storage disease 0, muscle, 611556 (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)
ITPKC {Kawasaki disease, susceptibility to}, 611775 (3)
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KCNN4 Dehydrated hereditary stomatocytosis 2, 616689 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)
?Precocious puberty, central, 1, 176400 (3)
KLF1 Blood group--Lutheran inhibitor, 111150 (3)
Dyserythropoietic anemia, congenital, type IV, 613673 (3)
[Hereditary persistence of fetal hemoglobin], 613566 (3)
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)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
MBOAT7 Mental retardation, autosomal recessive 57, 617188 (3)
MCOLN1 Mucolipidosis IV, 252650 (3)
MEGF8 Carpenter syndrome 2, 614976 (3)
MYH14 Deafness, autosomal dominant 4A, 600652 (3)
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NACC1 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (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)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PNPLA6 Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
?Laurence-Moon syndrome, 245800 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
RGS9BP Bradyopsia, 608415 (3)
RNASEH2A Aicardi-Goutieres syndrome 4, 610333 (3)
RTN2 Spastic paraplegia 12, autosomal dominant, 604805 (3)
RYR1 Central core disease, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
S1PR2 Deafness, autosomal recessive 68, 610419 (3)
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SIPA1L3 ?Cataract 45, 616851 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC5A5 Thyroid dyshormonogenesis 1, 274400 (3)
SLC7A9 Cystinuria, 220100 (3)
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)
TIMM50 3-methylglutaconic aciduria, type IX, 617698 (3)
TNNT1 Nemaline myopathy 5, Amish type, 605355 (3)
TSEN34 ?Pontocerebellar hypoplasia type 2C, 612390 (3)
TUBB4A Leukodystrophy, hypomyelinating, 6, 612438 (3)
Dystonia 4, torsion, autosomal dominant, 128101 (3)
TYK2 Immunodeficiency 35, 611521 (3)
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
XRCC1 ?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3)

Genes at Clinical Genomics Database

ACTN4, ADAMTS10, ADCK4, AMH, AP2S1, APOE, ATP1A3, B9D2, BCAM, BCKDHA, BLOC1S3, BSG, C3, CACNA1A, CALR3, CC2D1A, CCDC114, CD320, CEBPA, CERS1, CYP2A6, CYP4F2, DLL3, DNMT1, DOCK6, ERCC2, ETFB, FKRP, FTL, FUT3, FUZ, GDF1, GIPC3, GNA11, GP6, GPX4, GTPBP3, GYS1, IFNL3, INSL3, INSR, IRF3, JAK3, KCNC3, KCNN4, KISS1R, KLF1, KLK4, KPTN, LDLR, LTBP4, MCOLN1, MEGF8, MYH14, NDUFA11, NDUFS7, NLRP12, NLRP7, NOTCH3, NPHS1, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, PRKCG, PRKCSH, PRX, RGS9BP, RNASEH2A, RTN2, RYR1, S1PR2, SARS2, SDHAF1, SIPA1L3, SIX5, SLC5A5, SLC7A9, SMARCA4, STXBP2, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TNNT1, TSEN34, TUBB4A, 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
AP2S1 Hypocalciuric hypercalcemia, familial, type III
APOE Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III)
Lipoprotein glomerulopathy
Sea-blue histiocyte disease
ATP1A3 Alternating hemiplegia of childhood 2
B9D2 Meckel syndrome 10
BCAM Blood group, Lutheran system
Blood group, Auberger system
Lutheran, null
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
CD320 Methylmalonic aciduria due to transcobalamin receptor defect
CEBPA Acute myeloid leukemia, familial
CERS1 Epilepsy, progressive myoclonic 8
CYP2A6 CYP2A6-related drug metabolism
CYP4F2 Warfarin metabolism
DLL3 Spondylocostal dysostosis 1, 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
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
FUZ Neural tube defects, susceptibility to
GDF1 Transposition of the great arteries, dextro-looped 3
Double-outlet right ventricle
GIPC3 Deafness, autosomal recessive 15
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
INSL3 Cryptorchidism
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
IRF3 Herpes simplex encephalitis, susceptibility to, 7
JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
KCNC3 Spinocerebellar ataxia 13
KCNN4 Dehydrated hereditary stomatocytosis 2
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
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MCOLN1 Mucolipidosis IV
MEGF8 Carpenter syndrome 2
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
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PNPLA6 Boucher-Neuhauser syndrome
Laurence-Moon syndrome
Oliver-McFarlane syndrome
PRKCG Spinocerebellar ataxia 14
PRKCSH Polycystic liver disease
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
RGS9BP Bradyopsia
RNASEH2A Aicardi-Goutieres syndrome 4
RTN2 Spastic paraplegia 12, autosomal dominant
RYR1 Malignant hyperthermia, susceptibility 1
Central core disease
Minicore myopathy
Multicore myopathy
Minicore myopathy with external ophthalmoplegia
Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
S1PR2 Deafness, autosomal recessive 68
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
SIX5 Branchiootorenal syndrome 2
SLC5A5 Thyroid dyshormonogenesis 1
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
TSEN34 Pontocerebellar hypoplasia type 2C
TUBB4A Dystonia 4, torsion, autosomal dominant
Leukodystrophy, hypomyelinating, 6
TYK2 Immunodeficiency 35
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2 Schizophrenia
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 10350
Number of Genes: 773

Export to: CSV
  • Page 1 of 104

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 combined sample_50.variant14 19 rs893184
dbSNP Clinvar 		58864479 3001.6 T C PASS 1/1 162 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_50.variant14 19 rs3764645
dbSNP Clinvar 		1042809 3135.19 A G PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.39956 0.39960 0.38867 0.48 0.00 None None None None None None ABCA7|0.007770288|82.8%
View combined sample_50.variant14 19 rs3752234
dbSNP Clinvar 		1047002 5843.84 A G PASS 0/1 165 SYNONYMOUS_CODING LOW None 0.57887 0.57890 0.46635 None None None None None None ABCA7|0.007770288|82.8%
View combined sample_50.variant14 19 rs3752237
dbSNP Clinvar 		1047161 7137.74 A G PASS 0/1 267 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.37591 None None None None None None ABCA7|0.007770288|82.8%
View combined sample_50.variant14 19 rs3752240
dbSNP Clinvar 		1051214 1559.71 A G PASS 0/1 165 SYNONYMOUS_CODING LOW None 0.28914 0.28910 0.36546 None None None None None None ABCA7|0.007770288|82.8%
View combined sample_50.variant14 19 rs3764652
dbSNP Clinvar 		1052005 1979.04 C T PASS 0/1 180 SYNONYMOUS_CODING LOW None 0.37939 0.37940 0.40154 3.32 0.15 0.82802 D None None None None ABCA7|0.007770288|82.8%
View combined sample_50.variant14 19 rs3752243
dbSNP Clinvar 		1054060 2753.97 A G PASS 0/1 292 SYNONYMOUS_CODING LOW None 0.53614 0.53610 0.47355 None None None None None None ABCA7|0.007770288|82.8%
View combined sample_50.variant14 19 rs3745842
dbSNP Clinvar 		1055191 1973.87 G A PASS 0/1 165 NON_SYNONYMOUS_CODING MODERATE None 0.39058 0.39060 0.40647 0.54 0.00 None None None None None None ABCA7|0.007770288|82.8%
View combined sample_50.variant14 19 rs881768
dbSNP Clinvar 		1056065 1279.73 A G PASS 0/1 111 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 combined sample_50.variant14 19 rs3752246
dbSNP Clinvar 		1056492 2264.1 G C PASS 1/1 202 NON_SYNONYMOUS_CODING MODERATE None 0.82548 0.82550 0.12788 1.00 0.00 1.98 0.05 0.64766 D None None None None ABCA7|0.007770288|82.8%
View combined sample_50.variant14 19 rs4147930
dbSNP Clinvar 		1064193 943.92 G A PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.60643 0.60640 0.29566 None None None None None None ABCA7|0.007770288|82.8%
View combined sample_50.variant14 19 rs4147934
dbSNP Clinvar 		1065018 1843.02 G T PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.60503 0.60500 0.25026 0.88 0.10 None None None None None None ABCA7|0.007770288|82.8%
View combined sample_50.variant14 19 rs4147935
dbSNP Clinvar 		1065044 2188.57 C T PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.26141 None None None None None None ABCA7|0.007770288|82.8%

AC004076.9
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 combined sample_50.variant14 19 rs4801481
dbSNP Clinvar 		57949426 2431.54 A G PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.90915 0.90910 0.00 0.00 None None None None None None ZNF749|0.000341563|99.24%

AC006116.20
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 combined sample_50.variant14 19 rs3205192
dbSNP Clinvar 		56797879 2320.52 G A PASS 0/1 161 None None None 0.37640 0.37640 0.00 None None None None None None ZSCAN5A|0.000278912|99.5%
View combined sample_50.variant14 19 rs74177180
dbSNP Clinvar 		56797842 3168.12 CCTT C PASS 0/1 127 None None None 0.08566 0.08566 None None None None None None ZSCAN5A|0.000278912|99.5%

AC006486.1
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 combined sample_50.variant14 19 rs1006736673
dbSNP Clinvar 		42747024 867.96 C G PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.74 None None None None None None None

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 combined sample_50.variant14 19 rs8104574
dbSNP Clinvar 		13892285 996.96 G T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.36721 0.36720 0.01 0.98 None None None None None None None

AC010642.1
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 combined sample_50.variant14 19 rs374431
dbSNP Clinvar 		58790713 795.36 G C PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.60623 0.60620 0.00 0.00 None None None None None None ZNF8|0.004857832|86%
View combined sample_50.variant14 19 rs437229
dbSNP Clinvar 		58790675 2238.97 T C PASS 0/1 185 SYNONYMOUS_CODING LOW None 0.64477 0.64480 None None None None None None ZNF8|0.004857832|86%

AC011500.1
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 combined sample_50.variant14 19 rs1865091
dbSNP Clinvar 		39932066 599.76 T C PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.63998 0.64000 0.24 0.00 None None None None None None SUPT5H|0.226168272|33.75%

AC012313.1
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 combined sample_50.variant14 19 rs13343526
dbSNP Clinvar 		58908150 3609.81 C G PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.85503 0.85500 1.00 0.00 None None None None None None None

AC018755.1
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 combined sample_50.variant14 19 rs35740364
dbSNP Clinvar 		52097401 5341.79 T C PASS 1/1 275 SYNONYMOUS_CODING LOW None 0.16913 0.16910 None None None None None None None

AC020907.1
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 combined sample_50.variant14 19 rs2445826
dbSNP Clinvar 		35597352 3358.0 T C PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.99101 0.99100 None None None None None None None
View combined sample_50.variant14 19 rs10424084
dbSNP Clinvar 		35597462 3341.04 A G PASS 0/1 381 NON_SYNONYMOUS_CODING MODERATE None 0.48742 0.48740 0.63 0.00 None None None None None None None
View combined sample_50.variant14 19 rs10423723
dbSNP Clinvar 		35597620 2532.45 C T PASS 0/1 244 NON_SYNONYMOUS_CODING MODERATE None 0.48722 0.48720 0.07 0.02 None None None None None None None
View combined sample_50.variant14 19 rs7258700
dbSNP Clinvar 		35597729 882.13 C T PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.48363 0.48360 1.00 0.00 None None None None None None None

AC020922.1
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 combined sample_50.variant14 19 rs10405231
dbSNP Clinvar 		55856211 1390.11 C T PASS 1/1 129 SYNONYMOUS_CODING LOW None 0.49241 0.49240 0.40018 None None None None None None SUV420H2|0.012688919|78.75%

AC024592.12
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 combined sample_50.variant14 19 rs778971
dbSNP Clinvar 		5867748 2949.28 G T PASS 0/1 437 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%

AC025278.1
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 combined sample_50.variant14 19 rs7254322
dbSNP Clinvar 		7011826 832.52 T C PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.15455 0.15460 0.92 0.79 None None None None None None None
View combined sample_50.variant14 19 rs7249689
dbSNP Clinvar 		7011860 1114.67 G C PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.15216 0.15220 1.00 0.00 None None None None None None None
View combined sample_50.variant14 19 rs113730497
dbSNP Clinvar 		7011876 901.11 GT G PASS 0/1 60 FRAME_SHIFT HIGH None 0.15216 0.15220 None None None None None None None
View combined sample_50.variant14 19 rs546207896
dbSNP Clinvar 		7011878 913.15 C A PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.15216 0.15220 0.04 0.01 None None None None None None None
View combined sample_50.variant14 19 rs114601404
dbSNP Clinvar 		7011858 1114.69 C G PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.15216 0.15220 None None None None None None None

AC074212.3
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 combined sample_50.variant14 19 rs139434566
dbSNP Clinvar 		46265047 3253.15 A AT... PASS 0/1 89 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None None
View combined sample_50.variant14 19 rs8112282
dbSNP Clinvar 		46265029 2891.79 C T PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.53674 0.53670 None None None None None None None
View combined sample_50.variant14 19 rs77185077
dbSNP Clinvar 		46259293 712.4 G A PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.02077 0.02077 0.11 0.51 None None None None None None None

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 combined sample_50.variant14 19 rs4807840
dbSNP Clinvar 		6156483 3027.96 T C PASS 1/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.71206 0.71210 0.29994 1.00 0.00 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%

ACTL9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_50.variant14 19 rs4804079
dbSNP Clinvar 		8808373 7302.95 G T PASS 0/1 189 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 combined sample_50.variant14 19 rs10410943
dbSNP Clinvar 		8808900 3076.33 A G PASS 0/1 229 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 combined sample_50.variant14 19 rs2340550
dbSNP Clinvar 		8808942 3693.69 A G PASS 0/1 245 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 combined sample_50.variant14 19 rs73507819
dbSNP Clinvar 		8808240 3037.91 C G PASS 0/1 228 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00998 0.01553 0.23 0.90 None None None None None None ACTL9|0.004666462|86.26%

ACTN4
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 combined sample_50.variant14 19 rs1136956
dbSNP Clinvar 		39219780 2343.02 T C PASS 1/1 244 SYNONYMOUS_CODING LOW None 0.18750 0.18750 0.21375 None None None None None None ACTN4|0.387377198|21.58%
View combined sample_50.variant14 19 rs11553600
dbSNP Clinvar 		39196736 2372.74 G A PASS 0/1 192 SYNONYMOUS_CODING LOW None 0.11542 0.11540 0.15316 None None None None None None ACTN4|0.387377198|21.58%
View combined sample_50.variant14 19 rs12986337
dbSNP Clinvar 		39215172 1661.33 T C PASS 0/1 179 SYNONYMOUS_CODING LOW None 0.06909 0.06909 0.05790 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 combined sample_50.variant14 19 rs7252299
dbSNP Clinvar 		8645786 1865.24 A C PASS 1/1 75 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%
View combined sample_50.variant14 19 rs7255721
dbSNP Clinvar 		8669931 7560.04 G C PASS 0/1 247 NON_SYNONYMOUS_CODING MODERATE None 0.89397 0.89400 0.21830 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%

ADAMTSL5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_50.variant14 19 rs265291
dbSNP Clinvar 		1510661 703.25 A G PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.93570 0.93570 0.06900 None None None None None None ADAMTSL5|0.011039552|80.05%

ADAT3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_50.variant14 19 rs12984675
dbSNP Clinvar 		1912934 2521.68 T C PASS 0/1 292 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%
View combined sample_50.variant14 19 rs35870594
dbSNP Clinvar 		1912817 2561.87 C T PASS 0/1 361 SYNONYMOUS_CODING LOW None 0.09645 0.09645 0.04464 None None None None None None SCAMP4|0.018776981|74.82%,ADAT3|0.006291951|84.29%

ADCK4
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 combined sample_50.variant14 19 rs11538385
dbSNP Clinvar 		41209477 1266.12 C T PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.22943 0.22940 0.23197 None None None None None None ADCK4|0.043749388|64.59%
View combined sample_50.variant14 19 rs11673492
dbSNP Clinvar 		41220529 2588.2 C T PASS 0/1 185 SYNONYMOUS_CODING LOW None 0.09924 0.09924 0.17146 None None None None None None ADCK4|0.043749388|64.59%

AES
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_50.variant14 19 rs11539938
dbSNP Clinvar 		3062857 2121.35 T C PASS 1/1 210 SYNONYMOUS_CODING LOW None 0.38538 0.38540 0.35080 None None None None None None AES|0.064359463|58.79%

AKAP8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_50.variant14 19 rs117367631
dbSNP Clinvar 		15484129 2730.08 C T PASS 0/1 187 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00046 0.00 0.36 None None None None None None AKAP8|0.019632827|74.36%

AKAP8L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_50.variant14 19 rs2058322
dbSNP Clinvar 		15508362 3326.67 G C PASS 1/1 87 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 combined sample_50.variant14 19 rs11558188
dbSNP Clinvar 		49967981 777.89 T G PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.20986 0.20990 0.33692 None None None None None None ALDH16A1|0.021103617|73.62%
View combined sample_50.variant14 19 rs10853810
dbSNP Clinvar 		49969085 2637.53 C T PASS 0/1 278 SYNONYMOUS_CODING LOW None 0.20927 0.20930 0.33884 None None None None None None ALDH16A1|0.021103617|73.62%
View combined sample_50.variant14 19 rs1320303
dbSNP Clinvar 		49964977 5303.85 C G PASS 1/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.51018 0.51020 0.34881 1.00 0.01 None None None None None None ALDH16A1|0.021103617|73.62%
View combined sample_50.variant14 19 rs2293009
dbSNP Clinvar 		49967680 2099.85 G A PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.31150 0.31150 0.32921 None None None None None None ALDH16A1|0.021103617|73.62%
View combined sample_50.variant14 19 rs7259560
dbSNP Clinvar 		49965173 4436.92 A T PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.30092 0.30090 0.32176 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 combined sample_50.variant14 19 rs10407022
dbSNP Clinvar 		2249477 5567.73 G T PASS 1/1 188 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%
View combined sample_50.variant14 19 rs7252789
dbSNP Clinvar 		2251512 2262.87 T A PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.91893 0.91890 None None None None None None AMH|0.062219269|59.26%
View combined sample_50.variant14 19 rs10417628
dbSNP Clinvar 		2251817 11578.8 T C PASS 1/1 341 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%

ANGPTL4
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 combined sample_50.variant14 19 rs77938377
dbSNP Clinvar 		8434123 455.1 G C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.00639 0.00639 0.00577 0.50 0.42 None None None None None None ANGPTL4|0.044628099|64.29%
View combined sample_50.variant14 19 rs1044250
dbSNP Clinvar 		8436164 2004.06 C T PASS 0/1 229 NON_SYNONYMOUS_CODING MODERATE None 0.23962 0.23960 0.29140 0.27 0.04 None None None None None None ANGPTL4|0.044628099|64.29%

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 combined sample_50.variant14 19 rs559282550
dbSNP Clinvar 		10206953 267.25 A G PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.00379 0.00379 0.00 1.00 None None 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 combined sample_50.variant14 19 rs1864116
dbSNP Clinvar 		17393015 1230.67 C T PASS 0/1 37 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 combined sample_50.variant14 19 rs1864113
dbSNP Clinvar 		17393504 2038.94 G C PASS 0/1 61 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 combined sample_50.variant14 19 rs891017
dbSNP Clinvar 		17394504 5430.85 A C PASS 0/1 367 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 combined sample_50.variant14 19 rs11086065
dbSNP Clinvar 		17395003 1504.86 A G PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.63518 0.63520 0.19914 1.00 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View combined sample_50.variant14 19 rs11882562
dbSNP Clinvar 		17395055 1495.7 C G PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19922 None None None None None None ANKLE1|0.002494569|89.7%
View combined sample_50.variant14 19 rs751599
dbSNP Clinvar 		17396549 2403.01 T C PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19937 None None None None None None ANKLE1|0.002494569|89.7%
View combined sample_50.variant14 19 rs10425939
dbSNP Clinvar 		17397244 916.69 C T PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.09864 0.09864 0.17080 None None None None None None ANKLE1|0.002494569|89.7%
View combined sample_50.variant14 19 rs367668712
dbSNP Clinvar 		17397483 706.18 G T PASS 0/1 114 None None None 0.00 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View combined sample_50.variant14 19 rs770169539
dbSNP Clinvar 		17397487 586.98 GT... G PASS 0/1 131 None None None None None None None None None ANKLE1|0.002494569|89.7%
View combined sample_50.variant14 19 rs576892988
dbSNP Clinvar 		17397495 148.94 G T PASS 0/1 104 None None None 0.05531 0.05531 0.00 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View combined sample_50.variant14 19 rs758109052
dbSNP Clinvar 		17397497 1153.24 GTGTT G,... PASS 0/1 103 None None None 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 combined sample_50.variant14 19 rs12978469
dbSNP Clinvar 		4210356 4575.02 G A PASS 1/1 134 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 combined sample_50.variant14 19 rs10413818
dbSNP Clinvar 		4216910 2225.17 G A PASS 1/1 60 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%
View combined sample_50.variant14 19 rs353693
dbSNP Clinvar 		4217207 4971.36 T G PASS 1/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.97504 0.97500 0.05681 1.00 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View combined sample_50.variant14 19 rs58333777
dbSNP Clinvar 		4217587 1120.24 G A PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.33387 0.33390 None None None None None None ANKRD24|0.006993334|83.48%
View combined sample_50.variant14 19 rs6510794
dbSNP Clinvar 		4217956 2186.5 A G PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.45048 0.45050 0.37911 None None None None None None ANKRD24|0.006993334|83.48%
View combined sample_50.variant14 19 rs2052191
dbSNP Clinvar 		4200156 3380.41 G A PASS 1/1 86 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 combined sample_50.variant14 19 rs1963331
dbSNP Clinvar 		4198154 1305.66 C T PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.31689 0.31690 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 combined sample_50.variant14 19 rs7247420
dbSNP Clinvar 		33096786 1417.41 G A PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.23463 0.23460 0.18653 None None None None None None ANKRD27|0.115031878|48.32%
View combined sample_50.variant14 19 rs7248273
dbSNP Clinvar 		33096816 2025.36 C T PASS 0/1 106 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.18151 0.18150 0.15424 None None None None None None ANKRD27|0.115031878|48.32%
View combined sample_50.variant14 19 rs405858
dbSNP Clinvar 		33106621 457.14 C T PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.48083 0.48080 0.38974 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 combined sample_50.variant14 19 rs12977101
dbSNP Clinvar 		17434587 405.02 T G PASS 0/1 10 SYNONYMOUS_CODING LOW None 0.61861 0.61860 None None None None None None ANO8|0.037387399|66.65%
View combined sample_50.variant14 19 rs755123
dbSNP Clinvar 		17435884 17905.4 T C PASS 0/1 343 SYNONYMOUS_CODING LOW None 0.61881 0.61880 0.24758 None None None None None None ANO8|0.037387399|66.65%
View combined sample_50.variant14 19 rs8102944
dbSNP Clinvar 		17438642 4960.37 A G PASS 1/1 162 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 combined sample_50.variant14 19 rs3752797
dbSNP Clinvar 		16339715 643.93 C T PASS 0/1 205 SYNONYMOUS_CODING LOW None 0.45208 0.45210 0.44187 None None None None None None AP1M1|0.058029862|60.39%

AP2S1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_50.variant14 19 rs312185
dbSNP Clinvar 		47342867 1399.75 A C PASS 0/1 204 None None None 0.59066 0.59070 0.48962 0.72 0.00 None None None None None None AP2S1|0.194093268|37.41%

AP3D1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_50.variant14 19 rs25672
dbSNP Clinvar 		2138654 1331.28 T G PASS 1/1 139 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 combined sample_50.variant14 19 rs61735536
dbSNP Clinvar 		3752515 933.75 G A PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.17193 0.17190 0.08882 1.63 0.02 0.37243 T None None None None APBA3|0.009354531|81.41%
View combined sample_50.variant14 19 rs8102086
dbSNP Clinvar 		3752874 3536.77 A G PASS 0/1 364 NON_SYNONYMOUS_CODING MODERATE None 0.04153 0.04153 0.49646 0.23 0.00 None None None None None None APBA3|0.009354531|81.41%

APC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_50.variant14 19 rs61749994
dbSNP Clinvar 		1467803 1241.1 C T PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.02816 0.02815 0.03051 6.35 0.88 0.99111 D None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%
View combined sample_50.variant14 19 rs265278
dbSNP Clinvar 		1469030 1984.59 A G PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.19928 0.19930 0.12079 -1.00 0.51 0.95258 D None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%
View combined sample_50.variant14 19 rs166452
dbSNP Clinvar 		1469530 686.55 C G PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.19868 0.19870 0.00 None None None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%
View combined sample_50.variant14 19 rs265273
dbSNP Clinvar 		1467684 3020.4 A C PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.97584 0.97580 None None None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%

APOC4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_50.variant14 19 rs5167
dbSNP Clinvar 		45448465 6507.03 T G PASS 1/1 237 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%
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