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+ Genes 811

Genes:
A1BG, ABCA7, ABHD8, AC010642.1, AC012313.1, AC024592.12, AC074212.3, ACER1, ACPT, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADCK4, AES, AKAP8L, ALDH16A1, AMH, ANGPTL4, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP3D1, APBA3, APC2, APOC4, APOE, ARHGAP33, ARHGEF18, ARID3A, ASPDH, ATP1A3, ATP4A, ATP5SL, ATP8B3, AXL, B3GNT3, B3GNT8, B9D2, BCAT2, BCKDHA, BEST2, BIRC8, BRD4, BRSK1, BSPH1, BTBD2, C19orf12, C19orf24, C19orf26, C19orf44, C19orf45, C19orf53, C19orf54, C19orf55, C19orf57, C19orf59, C19orf68, C19orf71, C19orf73, C19orf81, C2CD4C, C3, C5AR2, CA11, CABP5, CACNA1A, CACTIN, CALR3, CAPN12, CAPS, CARD8, CATSPERG, CC2D1A, CCDC105, CCDC106, CCDC130, CCDC159, CCDC61, CCDC9, CCL25, CCNE1, CD177, CD22, CD320, CD33, CD37, CD3EAP, CD70, CDC34, CDKN2D, CEACAM18, CEACAM21, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEBPA, CEP89, CERS1, CERS4, CGB7, CGB8, CHAF1A, CHERP, CIB3, CIC, CILP2, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC4G, CLEC4M, CLPTM1, CNN2, CNOT3, COL5A3, COPE, CPAMD8, CRB3, CRTC1, CTB-54O9.9, CTD-2207O23.3, CTD-2583A14.9, CTD-3193O13.9, CTU1, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DACT3, DCAF15, DENND1C, DHDH, DHX34, DLL3, DMKN, DMRTC2, DMWD, DNAAF3, DNAJB1, DNMT1, DOCK6, DOT1L, DPY19L3, DUS3L, ECH1, EEF2, EHD2, EID2, EID2B, EIF3G, ELSPBP1, EMC10, EMR1, EMR2, EMR3, EPS15L1, EPS8L1, ERCC1, ERCC2, ERVV-2, ETHE1, ETV2, EVI5L, EXOC3L2, EXOSC5, F2RL3, FAM129C, FAM187B, FAM71E2, FBN3, FBXL12, FBXO17, FBXO46, FCAR, FCER2, FCGBP, FCHO1, FDX1L, FFAR1, FFAR2, FIZ1, FKRP, FOSB, FPR1, FPR3, FSD1, FSTL3, FTL, FUT2, FUT3, FUT5, FUT6, FXYD3, FXYD5, FXYD7, GADD45B, GALP, GATAD2A, GCDH, GDF1, GDF15, GFY, GIPC1, GLTSCR1, GLTSCR2, GNA11, GNA15, GNG8, GP6, GPATCH1, GPI, GPR108, GPR32, GPR42, GPX4, GRIN2D, GRIN3B, GSK3A, GTF2F1, GTPBP3, GYS1, GZMM, HAPLN4, HAS1, HAUS8, HCN2, HCST, HDGFRP2, HIF3A, HMHA1, HNRNPL, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HRC, HSD17B14, HSH2D, HSPBP1, ICAM1, ICAM3, ICAM5, IER2, IFI30, IFNL1, IFNL3, IFNL4, IGFL4, IL11, IL12RB1, IL27RA, IL4I1, ILF3, ILVBL, INSL3, INSR, IRF3, IRGC, ISYNA1, JSRP1, KANK3, KCNC3, KCNN4, KDM4B, KEAP1, KHSRP, KIAA0355, KIAA1683, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIRREL2, KISS1R, KLC3, KLF16, KLF2, KLK1, KLK10, KLK12, KLK14, KLK15, KLK3, KLK4, KLK5, KLK7, KLK9, KMT2B, KPTN, KRI1, LAIR1, LAIR2, LDLR, LENG8, LENG9, LGALS14, LGALS16, LGALS4, LGI4, LHB, LIG1, LILRA1, LILRA2, LILRA3, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LIN7B, LONP1, LPAR2, LRFN3, LRP3, LRRC25, LRRC8E, LSM14A, LSM4, LSR, LTBP4, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP4K1, MARCH2, MARK4, MAST3, MAU2, MBD3L1, MBD3L2, MBD3L3, MBOAT7, MED16, MEX3D, MFSD12, MIER2, MISP, MOB3A, MPND, MPV17L2, MRPL34, MRPL54, MUC16, MUM1, MVB12A, MYADM, MYBPC2, MYH14, MYO9B, MYPOP, MZF1, NANOS3, NCLN, NCR1, NDUFA11, NDUFB7, NDUFS7, NFKBIB, NFKBID, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOTCH3, NOVA2, NPAS1, NPHS1, NR1H2, NR2F6, NRTN, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, OCEL1, ODF3L2, OLFM2, OPA3, OR10H1, OR10H2, OR10H3, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7C1, OR7C2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, OSCAR, OVOL3, PAF1, PALM, PALM3, PAPL, PDE4A, PDE4C, PEPD, PGLS, PHLDB3, PIAS4, PIH1D1, PIK3R2, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLD3, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLIN5, PLK5, POLD1, POLR2E, POLRMT, POP4, POU2F2, PPAN-P2RY11, PPAP2C, PPFIA3, PPM1N, PPP1R12C, PPP1R15A, PPP1R37, PPP5C, PPP6R1, PRAM1, PRKCG, PRKD2, PRR12, PRR22, PRR24, PRRG2, PRSS57, PRTN3, PRX, PSG1, PSG2, PSG4, PSG6, PSG7, PSG9, PSPN, PTGER1, PTGIR, PTOV1, PTPRH, PTPRS, PVR, PVRL2, RASAL3, RASGRP4, RASIP1, RAVER1, RCN3, RDH13, RDH8, REXO1, RFPL4A, RFPL4AL1, RFX1, RFX2, RGL3, RHPN2, RINL, RNF126, RPL28, RPS16, RPSAP58, RRAS, RTBDN, RYR1, S1PR2, S1PR5, SAE1, SBK2, SBK3, SBNO2, SCAF1, SDHAF1, SERTAD1, SERTAD3, SF3A2, SH2D3A, SH3GL1, SHANK1, SHC2, SHD, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC1A6, SLC25A23, SLC25A41, SLC25A42, SLC27A1, SLC35E1, SLC44A2, SLC7A9, SNRNP70, SPC24, SPIB, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STRN4, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SYCN, SYDE1, SYMPK, SYNE4, SYT3, TBC1D17, TBXA2R, TCF3, TDRD12, TGFB1, THAP8, THEG, TICAM1, TIMM50, TJP3, TLE2, TLE6, TMEM143, TMEM145, TMEM150B, TMEM161A, TMEM190, TMEM221, TMEM238, TMEM259, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFSF14, TNNI3, TNNT1, TPGS1, TPRX1, TRAPPC5, TRIM28, TRIP10, TRPM4, TSEN34, TSHZ3, TSSK6, TTYH1, TUBB4A, TULP2, TYK2, U2AF2, UBA2, UBE2S, UBXN6, UNC13A, UQCRFS1, URI1, USE1, USF2, USHBP1, USP29, VN1R2, VN1R4, VRK3, VSIG10L, VSTM2B, WDR18, WDR62, WDR87, WDR88, WIZ, WTIP, XRCC1, YIPF2, ZC3H4, ZFP28, ZFP36, ZFP82, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF112, ZNF121, ZNF132, ZNF135, ZNF146, ZNF154, ZNF155, ZNF160, ZNF175, ZNF177, ZNF180, ZNF181, ZNF208, ZNF221, ZNF223, ZNF224, ZNF226, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF256, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF317, ZNF320, ZNF324, ZNF331, ZNF333, ZNF345, ZNF347, ZNF350, ZNF358, ZNF382, ZNF404, ZNF414, ZNF415, ZNF416, ZNF418, ZNF420, ZNF426, ZNF429, ZNF432, ZNF440, ZNF441, ZNF442, ZNF443, ZNF446, ZNF45, ZNF461, ZNF468, ZNF470, ZNF471, ZNF480, ZNF490, ZNF492, ZNF493, ZNF497, ZNF507, ZNF525, ZNF526, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF541, ZNF544, ZNF548, ZNF549, ZNF550, ZNF554, ZNF555, ZNF556, ZNF557, ZNF559, ZNF560, ZNF561, ZNF565, ZNF566, ZNF567, ZNF568, ZNF57, ZNF570, ZNF571, ZNF573, ZNF577, ZNF578, ZNF579, ZNF584, ZNF585A, ZNF585B, ZNF587B, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF625, ZNF626, ZNF628, ZNF66, ZNF665, ZNF667, ZNF675, ZNF676, ZNF677, ZNF681, ZNF69, ZNF699, ZNF700, ZNF701, ZNF708, ZNF709, ZNF71, ZNF714, ZNF724P, ZNF726, ZNF729, ZNF730, ZNF737, ZNF738, ZNF749, ZNF765, ZNF77, ZNF772, ZNF773, ZNF787, ZNF788, ZNF792, ZNF793, ZNF799, ZNF805, ZNF808, ZNF813, ZNF814, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF844, ZNF845, ZNF846, ZNF850, ZNF878, ZNF880, ZNF91, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN5B, ZSCAN5C, ZSCAN5D, hsa-mir-1199,

+ Genes associated with diseases 116

Genes at Omim

ABCA7, ACPT, ACTN4, ADAMTS10, ADAT3, AMH, ANGPTL4, AP3D1, APC2, APOE, ARHGEF18, ATP1A3, B9D2, BCAT2, BCKDHA, C19orf12, C3, CACNA1A, CC2D1A, CD320, CEBPA, CERS1, CIC, CLEC4M, CPAMD8, CRTC1, CYP2A6, CYP2B6, DLL3, DNAAF3, DNMT1, DOCK6, EEF2, ERCC1, ERCC2, ETHE1, FDX1L, FKRP, FTL, FUT2, FUT3, FUT6, GCDH, GDF1, GNA11, GP6, GPI, GPX4, GRIN2D, GTPBP3, GYS1, ICAM1, IFNL3, IL12RB1, INSL3, INSR, IRF3, KCNC3, KCNN4, KIR3DL1, KISS1R, KLK1, KLK4, KMT2B, KPTN, LDLR, LGI4, LHB, LONP1, LTBP4, MAG, MAN2B1, MAP2K2, MBOAT7, MYH14, MYO9B, NDUFA11, NDUFS7, NLRP12, NOTCH3, NPHS1, NTF4, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PLD3, PLEKHG2, POLD1, PRKCG, PRX, RYR1, S1PR2, SDHAF1, SH3GL1, SIPA1L3, SIX5, SLC7A9, SPTBN4, SULT2B1, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TIMM50, TLE6, TNNI3, TNNT1, TRPM4, TSEN34, TUBB4A, TYK2, WDR62, XRCC1,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACPT Amelogenesis imperfecta, type IJ, 617297 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
ADAT3 Mental retardation, autosomal recessive 36, 615286 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (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)
C19orf12 Neurodegeneration with brain iron accumulation 4, 614298 (3)
?Spastic paraplegia 43, autosomal recessive, 615043 (3)
C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
C3 deficiency, 613779 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
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)
CLEC4M SARS infection, protection against (2)
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)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DOCK6 Adams-Oliver syndrome 2, 614219 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ERCC2 ?Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Xeroderma pigmentosum, group D, 278730 (3)
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)
GDF1 Congenital heart defects, multiple types, 6, 613854 (3)
Right atrial isomerism (Ivemark), 208530 (3)
GNA11 Hypocalcemia, autosomal dominant 2, 615361 (3)
Hypocalciuric hypercalcemia, type II, 145981 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GPI Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRIN2D Epileptic encephalopathy, early infantile, 46, 617162 (3)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
GYS1 Glycogen storage disease 0, muscle, 611556 (3)
ICAM1 {Malaria, cerebral, susceptibility to}, 611162 (3)
IFNL3 {Hepatitis C virus infection, response to therapy of}, 609532 (3)
IL12RB1 Immunodeficiency 30, 614891 (3)
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)
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)
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)
MBOAT7 Mental retardation, autosomal recessive 57, 617188 (3)
MYH14 Deafness, autosomal dominant 4A, 600652 (3)
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFA11 Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)
NDUFS7 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)
Lateral meningocele syndrome, 130720 (3)
?Myofibromatosis, infantile 2, 615293 (3)
NPHS1 Nephrotic syndrome, type 1, 256300 (3)
NTF4 Glaucoma 1, open angle, 1O, 613100 (3)
NUP62 Striatonigral degeneration, infantile, 271930 (3)
OPA3 Optic atrophy 3 with cataract, 165300 (3)
3-methylglutaconic aciduria, type III, 258501 (3)
PEPD Prolidase deficiency, 170100 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIP5K1C Lethal congenital contractural syndrome 3, 611369 (3)
PLD3 ?Spinocerebellar ataxia 46, 617770 (3)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
{Colorectal cancer, susceptibility to, 10}, 612591 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
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)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SIPA1L3 ?Cataract 45, 616851 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC7A9 Cystinuria, 220100 (3)
SPTBN4 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
SULT2B1 Ichthyosis, congenital, autosomal recessive 14, 617571 (3)
SYNE4 Deafness, autosomal recessive 76, 615540 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TGFB1 Camurati-Engelmann disease, 131300 (3)
Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TICAM1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TIMM50 3-methylglutaconic aciduria, type IX, 617698 (3)
TLE6 Preimplantation embryonic lethality, 616814 (3)
TNNI3 Cardiomyopathy, dilated, 1FF, 613286 (3)
Cardiomyopathy, familial restrictive, 1, 115210 (3)
Cardiomyopathy, hypertrophic, 7, 613690 (3)
?Cardiomyopathy, dilated, 2A, 611880 (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)
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, APOE, ATP1A3, B9D2, BCKDHA, C3, CACNA1A, CALR3, CC2D1A, CD320, CEBPA, CERS1, CYP2A6, CYP2B6, CYP4F2, DLL3, DNMT1, DOCK6, ERCC1, ERCC2, ETHE1, FKRP, FTL, FUT3, FUT6, GCDH, GDF1, GNA11, GP6, GPI, GPX4, GTPBP3, GYS1, IFNL3, IL12RB1, INSL3, INSR, IRF3, KCNC3, KCNN4, KISS1R, KLK4, KPTN, LDLR, LHB, LONP1, LTBP4, MAG, MAN2B1, MAP2K2, MYH14, NDUFA11, NDUFS7, NLRP12, NLRP7, NOTCH3, NPHS1, NTF4, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PLEKHG2, POLD1, PRKCG, PRX, RYR1, S1PR2, SDHAF1, SIPA1L3, SIX5, SLC7A9, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TLE6, TNNI3, TNNT1, TRPM4, TSEN34, TUBB4A, TYK2, WDR62, ZIM2, ZNF480, ZNF565,
ACTN4 Focal segmental glomerulosclerosis 1
ADAMTS10 Weill-Marchesani syndrome 1
ADCK4 Nephrotic syndrome, type 9
AMH Persistent Mullerian duct syndrome, type I
APOE Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III)
Lipoprotein glomerulopathy
Sea-blue histiocyte disease
ATP1A3 Alternating hemiplegia of childhood 2
B9D2 Meckel syndrome 10
BCKDHA Maple syrup urine disease, type Ia
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
CD320 Methylmalonic aciduria due to transcobalamin receptor defect
CEBPA Acute myeloid leukemia, familial
CERS1 Epilepsy, progressive myoclonic 8
CYP2A6 CYP2A6-related drug metabolism
CYP2B6 Efavirenz, poor metabolism of
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
ERCC1 Cerebrooculofacioskeletal syndrome 4
ERCC2 Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
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
GDF1 Transposition of the great arteries, dextro-looped 3
Double-outlet right ventricle
GNA11 Hypocalcemia 2, autosomal dominant
Hypocalciuric hypercalcemia, autosomal dominant
GP6 Bleeding disorder, platelet-type, 11
GPI Hemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiency
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GTPBP3 Combined oxidative phosphorylation deficiency 23
GYS1 Glycogen storage disease, type 0, muscle
IFNL3 Drug metabolism, IL28B-related
IL12RB1 Immunodeficiency 30
INSL3 Cryptorchidism
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
IRF3 Herpes simplex encephalitis, susceptibility to, 7
KCNC3 Spinocerebellar ataxia 13
KCNN4 Dehydrated hereditary stomatocytosis 2
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
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
NTF4 Glaucoma 1, open angle, O
NUP62 Striatonigral degeneration, infantile
OPA3 3-methylglutaconic aciduria, type III
Optic atrophy 3, autosomal dominant
PEPD Prolidase deficiency
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
POLD1 Colorectal cancer, susceptibility to, 10
PRKCG Spinocerebellar ataxia 14
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
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
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
SIX5 Branchiootorenal syndrome 2
SLC7A9 Cystinuria
SYNE4 Deafness, autosomal recessive, 76
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF3 Agammaglobulinemia 8, autosomal dominant
TGFB1 Camurati-Engelmann disease
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TLE6 Preimplantation embryonic lethality
TNNI3 Cardiomyopathy, familial hypertrophic 7
Cardiomyopathy, dilated 1FF
Cardiomyopathy, dilated, 2A
Cardiomyopathy, familial restrictive
TNNT1 Nemaline myopathy 5
TRPM4 Progressive familial heart block, type IB
TSEN34 Pontocerebellar hypoplasia type 2C
TUBB4A Dystonia 4, torsion, autosomal dominant
Leukodystrophy, hypomyelinating, 6
TYK2 Immunodeficiency 35
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2 Schizophrenia
ZNF480 Schizophrenia
ZNF565 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 7860
Number of Genes: 811

Export to: CSV

A1BG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs893184
dbSNP Clinvar 		58864479 7753.07 T C . 1/1 235 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84844 0.84840 0.10849 0.91 0.00 None None None None None None A1BG|0.00221541|90.38%

ABCA7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs3752234
dbSNP Clinvar 		1047002 4439.61 A G . 0/1 339 SYNONYMOUS_CODING LOW SILENT 0.57887 0.57890 0.46635 None None None None None None ABCA7|0.007770288|82.8%
View galaxy7-vcffilter__3466nr40 19 rs3764652
dbSNP Clinvar 		1052005 11259.4 C T . 1/1 345 SYNONYMOUS_CODING LOW SILENT 0.37939 0.37940 0.40154 None None None None None None ABCA7|0.007770288|82.8%
View galaxy7-vcffilter__3466nr40 19 rs3752241
dbSNP Clinvar 		1053524 1870.52 C G . 0/1 140 SYNONYMOUS_CODING LOW SILENT 0.18271 0.18270 0.16388 None None None None None None ABCA7|0.007770288|82.8%
View galaxy7-vcffilter__3466nr40 19 rs3752237
dbSNP Clinvar 		1047161 3685.75 A G . 0/1 321 SYNONYMOUS_CODING LOW SILENT 0.69529 0.69530 0.37591 None None None None None None ABCA7|0.007770288|82.8%
View galaxy7-vcffilter__3466nr40 19 rs881768
dbSNP Clinvar 		1056065 6894.74 A G . 1/1 210 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.44209 0.44210 0.45937 None None None None None None ABCA7|0.007770288|82.8%
View galaxy7-vcffilter__3466nr40 19 rs3752243
dbSNP Clinvar 		1054060 7635.29 A G . 1/1 232 SYNONYMOUS_CODING LOW SILENT 0.53614 0.53610 0.47355 None None None None None None ABCA7|0.007770288|82.8%
View galaxy7-vcffilter__3466nr40 19 rs4147934
dbSNP Clinvar 		1065018 5617.56 G T . 1/1 171 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60503 0.60500 0.25026 0.88 0.03 None None None None None None ABCA7|0.007770288|82.8%
View galaxy7-vcffilter__3466nr40 19 rs3752246
dbSNP Clinvar 		1056492 6230.12 G C . 1/1 196 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82548 0.82550 0.12788 1.00 0.00 None None None None None None ABCA7|0.007770288|82.8%
View galaxy7-vcffilter__3466nr40 19 rs3745842
dbSNP Clinvar 		1055191 12474.3 G A . 1/1 384 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39058 0.39060 0.40647 0.54 0.00 None None None None None None ABCA7|0.007770288|82.8%
View galaxy7-vcffilter__3466nr40 19 rs4147930
dbSNP Clinvar 		1064193 7829.28 G A . 1/1 240 SYNONYMOUS_CODING LOW SILENT 0.60643 0.60640 0.29566 None None None None None None ABCA7|0.007770288|82.8%

ABHD8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs11086067
dbSNP Clinvar 		17412399 3044.77 G A . 0/1 225 SYNONYMOUS_CODING LOW SILENT 0.23862 0.23860 0.24494 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%
View galaxy7-vcffilter__3466nr40 19 rs11086066
dbSNP Clinvar 		17412366 3382.08 G A . 0/1 263 SYNONYMOUS_CODING LOW SILENT 0.23702 0.23700 0.24633 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%

AC010642.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs260501
dbSNP Clinvar 		58790807 7667.53 T G . 1/1 233 SYNONYMOUS_CODING LOW SILENT 0.60663 0.60660 None None None None None None ZNF8|0.004857832|86%
View galaxy7-vcffilter__3466nr40 19 rs374431
dbSNP Clinvar 		58790713 9925.92 G C . 1/1 301 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60623 0.60620 0.00 0.00 None None None None None None ZNF8|0.004857832|86%
View galaxy7-vcffilter__3466nr40 19 rs437229
dbSNP Clinvar 		58790675 10217.4 T C . 1/1 311 SYNONYMOUS_CODING LOW SILENT 0.64477 0.64480 None None None None None None ZNF8|0.004857832|86%

AC012313.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs13343526
dbSNP Clinvar 		58908150 5639.17 C G . 1/1 175 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85503 0.85500 1.00 0.00 None None None None None None None

AC024592.12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs778971
dbSNP Clinvar 		5867748 5390.21 G T . 1/1 167 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.63878 0.63880 0.46529 0.09 0.65 None None None None None None FUT5|0.001156471|94.68%

AC074212.3
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 galaxy7-vcffilter__3466nr40 19 . 46265047 975.626 AT... AT... . 0/1 162 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None
View galaxy7-vcffilter__3466nr40 19 rs8112282
dbSNP Clinvar 		46265029 4315.03 C T . 0/1 338 SYNONYMOUS_CODING LOW SILENT 0.53674 0.53670 None None None None None None None
View galaxy7-vcffilter__3466nr40 19 rs725660
dbSNP Clinvar 		46262286 1476.16 C A . 0/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29253 0.29250 0.01 0.94 None None None None None None None

ACER1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs78590644
dbSNP Clinvar 		6333533 2141.21 G A . 0/1 122 SYNONYMOUS_CODING LOW SILENT 0.03454 0.03454 0.04216 None None None None None None ACER1|0.011802088|79.38%

ACPT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs2162784
dbSNP Clinvar 		51293955 979.594 G A . 0/1 107 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.09964 0.09964 0.08964 None None None None None None ACPT|0.016239372|76.31%

ACSBG2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs4807840
dbSNP Clinvar 		6156483 3301.31 T C . 1/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71206 0.71210 0.29994 1.00 0.00 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%

ACTL9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs4804079
dbSNP Clinvar 		8808373 3448.14 G T . 1/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60004 0.60000 0.47201 0.51 0.87 None None None None None None ACTL9|0.004666462|86.26%
View galaxy7-vcffilter__3466nr40 19 rs2340550
dbSNP Clinvar 		8808942 8641.89 A G . 1/1 262 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79173 0.79170 0.28447 0.56 0.00 None None None None None None ACTL9|0.004666462|86.26%
View galaxy7-vcffilter__3466nr40 19 rs10410943
dbSNP Clinvar 		8808900 5994.96 A G . 1/1 183 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79173 0.79170 0.27926 1.00 0.00 None None None None None None ACTL9|0.004666462|86.26%

ACTN4
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 galaxy7-vcffilter__3466nr40 19 rs1136956
dbSNP Clinvar 		39219780 1152.05 T C . 0/1 143 SYNONYMOUS_CODING LOW SILENT 0.18750 0.18750 0.21375 None None None None None None ACTN4|0.387377198|21.58%
View galaxy7-vcffilter__3466nr40 19 rs3745859
dbSNP Clinvar 		39196745 2016.07 C T . 0/1 136 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.33926 0.33930 0.39236 None None None None None None ACTN4|0.387377198|21.58%
View galaxy7-vcffilter__3466nr40 19 rs11553600
dbSNP Clinvar 		39196736 1367.95 G A . 0/1 138 SYNONYMOUS_CODING LOW SILENT 0.11542 0.11540 0.15316 None None None None None None ACTN4|0.387377198|21.58%

ADAMTS10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs7252299
dbSNP Clinvar 		8645786 3618.22 A C . 1/1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99980 0.99980 0.00015 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%
View galaxy7-vcffilter__3466nr40 19 rs7255721
dbSNP Clinvar 		8669931 2601.29 G C . 0/1 184 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89397 0.89400 0.21830 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%

ADAMTSL5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs265291
dbSNP Clinvar 		1510661 10119.7 A G . 1/1 306 SYNONYMOUS_CODING LOW SILENT 0.93570 0.93570 0.06900 None None None None None None ADAMTSL5|0.011039552|80.05%

ADAT3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs35870594
dbSNP Clinvar 		1912817 2587.43 C T . 0/1 221 SYNONYMOUS_CODING LOW SILENT 0.09645 0.09645 0.04464 None None None None None None SCAMP4|0.018776981|74.82%,ADAT3|0.006291951|84.29%
View galaxy7-vcffilter__3466nr40 19 rs12984675
dbSNP Clinvar 		1912934 8218.35 T C . 1/1 250 SYNONYMOUS_CODING LOW SILENT 0.36322 0.36320 0.24623 None None None None None None SCAMP4|0.018776981|74.82%,ADAT3|0.006291951|84.29%

ADCK4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs3865452
dbSNP Clinvar 		41211056 4876.24 T C . 1/1 148 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47744 0.47740 0.45248 0.53 0.00 None None None None None None ADCK4|0.043749388|64.59%
View galaxy7-vcffilter__3466nr40 19 rs144343899
dbSNP Clinvar 		41198211 1938.89 T C . 0/1 162 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.00008 0.00 0.93 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 galaxy7-vcffilter__3466nr40 19 rs11539938
dbSNP Clinvar 		3062857 2323.25 T C . 0/1 171 SYNONYMOUS_CODING LOW SILENT 0.38538 0.38540 0.35080 None None None None None None AES|0.064359463|58.79%

AKAP8L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs2058322
dbSNP Clinvar 		15508362 4705.18 G C . 1/1 144 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 galaxy7-vcffilter__3466nr40 19 rs7259560
dbSNP Clinvar 		49965173 7853.44 A T . 1/1 241 SYNONYMOUS_CODING LOW SILENT 0.30092 0.30090 0.32176 None None None None None None ALDH16A1|0.021103617|73.62%
View galaxy7-vcffilter__3466nr40 19 rs1320303
dbSNP Clinvar 		49964977 9658.79 C G . 1/1 293 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51018 0.51020 0.34881 1.00 0.00 None None None None None None ALDH16A1|0.021103617|73.62%
View galaxy7-vcffilter__3466nr40 19 rs2293009
dbSNP Clinvar 		49967680 8128.33 G A . 1/1 254 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 galaxy7-vcffilter__3466nr40 19 rs7252789
dbSNP Clinvar 		2251512 7899.0 T A . 1/1 240 SYNONYMOUS_CODING LOW SILENT 0.91893 0.91890 None None None None None None AMH|0.062219269|59.26%
View galaxy7-vcffilter__3466nr40 19 rs10407022
dbSNP Clinvar 		2249477 9557.63 G T . 1/1 290 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67592 0.67590 0.26055 0.00 0.37 None None None None None None AMH|0.062219269|59.26%
View galaxy7-vcffilter__3466nr40 19 rs10417628
dbSNP Clinvar 		2251817 12341.7 T C . 1/1 373 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99002 0.99000 0.01798 0.77 0.00 None None None None None None AMH|0.062219269|59.26%

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 galaxy7-vcffilter__3466nr40 19 rs1044250
dbSNP Clinvar 		8436164 3645.68 C T . 0/1 263 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23962 0.23960 0.29140 0.27 0.06 None None None None None None ANGPTL4|0.044628099|64.29%

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 galaxy7-vcffilter__3466nr40 19 . 17397497 1428.63 GT... GT... . 1/2 62 None None None None None None None None None ANKLE1|0.002494569|89.7%
View galaxy7-vcffilter__3466nr40 19 rs371454519
dbSNP Clinvar 		17397493 391.419 G T . 0/1 97 None None None 0.64 None None None None None None ANKLE1|0.002494569|89.7%
View galaxy7-vcffilter__3466nr40 19 rs367668712
dbSNP Clinvar 		17397483 971.649 G T . 0/1 144 None None None 0.05 None None None None None None ANKLE1|0.002494569|89.7%
View galaxy7-vcffilter__3466nr40 19 rs1465581
dbSNP Clinvar 		17397481 1649.62 G T . 0/1 150 None None None 0.01 None None None None None None ANKLE1|0.002494569|89.7%
View galaxy7-vcffilter__3466nr40 19 rs751599
dbSNP Clinvar 		17396549 9942.05 T C . 1/1 310 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.19937 None None None None None None ANKLE1|0.002494569|89.7%
View galaxy7-vcffilter__3466nr40 19 rs11882562
dbSNP Clinvar 		17395055 4592.68 C G . 1/1 142 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.19922 None None None None None None ANKLE1|0.002494569|89.7%
View galaxy7-vcffilter__3466nr40 19 rs11086065
dbSNP Clinvar 		17395003 7694.39 A G . 1/1 235 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63518 0.63520 0.19914 1.00 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View galaxy7-vcffilter__3466nr40 19 rs891017
dbSNP Clinvar 		17394504 8203.18 A C . 1/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63538 0.63540 0.19952 0.48 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View galaxy7-vcffilter__3466nr40 19 rs2363956
dbSNP Clinvar 		17394124 2532.63 T G . 0/1 219 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46066 0.46070 0.48747 0.03 1.00 None None None None None None ANKLE1|0.002494569|89.7%
View galaxy7-vcffilter__3466nr40 19 rs8108174
dbSNP Clinvar 		17393530 3225.05 T A . 0/1 255 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46066 0.46070 0.43206 0.01 1.00 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View galaxy7-vcffilter__3466nr40 19 rs1864113
dbSNP Clinvar 		17393504 8532.1 G C . 1/1 259 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.16019 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View galaxy7-vcffilter__3466nr40 19 rs1864116
dbSNP Clinvar 		17393015 8429.92 C T . 1/1 269 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63538 0.63540 0.13051 0.21 0.02 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View galaxy7-vcffilter__3466nr40 19 rs8100241
dbSNP Clinvar 		17392894 4242.21 G A . 0/1 344 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42732 0.42730 0.43512 0.01 0.88 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%

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 galaxy7-vcffilter__3466nr40 19 rs74178438
dbSNP Clinvar 		4198463 1784.07 G A . 0/1 168 SYNONYMOUS_CODING LOW SILENT 0.20288 0.20290 None None None None None None ANKRD24|0.006993334|83.48%
View galaxy7-vcffilter__3466nr40 19 rs2240669
dbSNP Clinvar 		4207940 3572.84 G A . 0/1 267 SYNONYMOUS_CODING LOW SILENT 0.19569 0.19570 0.13647 None None None None None None ANKRD24|0.006993334|83.48%
View galaxy7-vcffilter__3466nr40 19 rs12978469
dbSNP Clinvar 		4210356 2203.76 G A . 0/1 142 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61282 0.61280 0.37995 0.11 0.01 None None None None None None ANKRD24|0.006993334|83.48%
View galaxy7-vcffilter__3466nr40 19 rs12980998
dbSNP Clinvar 		4217510 2544.3 A T . 0/1 199 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26977 0.26980 0.37 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View galaxy7-vcffilter__3466nr40 19 rs353693
dbSNP Clinvar 		4217207 7932.54 T G . 1/1 240 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97504 0.97500 0.05681 1.00 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View galaxy7-vcffilter__3466nr40 19 rs10413818
dbSNP Clinvar 		4216910 1332.45 G A . 0/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71166 0.71170 0.27616 0.11 0.00 None None None None None None ANKRD24|0.006993334|83.48%

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 galaxy7-vcffilter__3466nr40 19 rs6510271
dbSNP Clinvar 		33117666 2266.86 T C . 0/1 194 SYNONYMOUS_CODING LOW SILENT 0.65196 0.65200 0.34084 None None None None None None ANKRD27|0.115031878|48.32%
View galaxy7-vcffilter__3466nr40 19 rs2287669
dbSNP Clinvar 		33110204 677.389 T C . 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46026 0.46030 0.44710 0.22 0.08 None None None None None None ANKRD27|0.115031878|48.32%
View galaxy7-vcffilter__3466nr40 19 rs405858
dbSNP Clinvar 		33106621 1600.73 C T . 0/1 227 SYNONYMOUS_CODING LOW SILENT 0.48083 0.48080 0.38974 None None None None None None ANKRD27|0.115031878|48.32%
View galaxy7-vcffilter__3466nr40 19 rs7248273
dbSNP Clinvar 		33096816 1261.56 C T . 0/1 146 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.18151 0.18150 0.15424 None None None None None None ANKRD27|0.115031878|48.32%
View galaxy7-vcffilter__3466nr40 19 rs7247420
dbSNP Clinvar 		33096786 1571.66 G A . 0/1 156 SYNONYMOUS_CODING LOW SILENT 0.23463 0.23460 0.18653 None None None None None None ANKRD27|0.115031878|48.32%

ANO8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs61734355
dbSNP Clinvar 		17441909 2314.75 T G . 0/1 168 SYNONYMOUS_CODING LOW SILENT 0.04852 0.04852 0.09080 None None None None None None ANO8|0.037387399|66.65%
View galaxy7-vcffilter__3466nr40 19 rs76655932
dbSNP Clinvar 		17439320 6015.99 C T . 0/1 458 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04812 0.04812 0.07870 0.31 0.01 None None None None None None ANO8|0.037387399|66.65%
View galaxy7-vcffilter__3466nr40 19 rs8102944
dbSNP Clinvar 		17438642 10108.1 A G . 1/1 307 SYNONYMOUS_CODING LOW SILENT 0.62181 0.62180 0.24289 None None None None None None ANO8|0.037387399|66.65%
View galaxy7-vcffilter__3466nr40 19 . 17435884 6329.19 TGAC CG... . 1/2 216 SYNONYMOUS_CODING LOW None None None None None None ANO8|0.037387399|66.65%
View galaxy7-vcffilter__3466nr40 19 rs755124
dbSNP Clinvar 		17435851 2282.43 G T . 0/1 167 SYNONYMOUS_CODING LOW SILENT 0.04473 0.04473 0.08422 None None None None None None ANO8|0.037387399|66.65%
View galaxy7-vcffilter__3466nr40 19 . 17434475 239.222 CGGGT GGGGG . 0/1 111 NON_SYNONYMOUS_CODING MODERATE None None None None None None ANO8|0.037387399|66.65%
View galaxy7-vcffilter__3466nr40 19 rs12977101
dbSNP Clinvar 		17434587 3595.94 T G . 1/1 109 SYNONYMOUS_CODING LOW SILENT 0.61861 0.61860 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 galaxy7-vcffilter__3466nr40 19 rs3752797
dbSNP Clinvar 		16339715 5194.55 C T . 1/1 163 SYNONYMOUS_CODING LOW SILENT 0.45208 0.45210 0.44187 None None None None None None AP1M1|0.058029862|60.39%

AP3D1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs25672
dbSNP Clinvar 		2138654 5659.43 T G . 1/1 172 SYNONYMOUS_CODING LOW SILENT 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 galaxy7-vcffilter__3466nr40 19 rs8102086
dbSNP Clinvar 		3752874 3270.61 A G . 0/1 271 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04153 0.04153 0.49646 0.23 0.00 None None None None None None APBA3|0.009354531|81.41%
View galaxy7-vcffilter__3466nr40 19 rs3746120
dbSNP Clinvar 		3753769 1470.99 C T . 0/1 124 SYNONYMOUS_CODING LOW SILENT 0.34006 0.34010 0.32226 None None None None None None APBA3|0.009354531|81.41%
View galaxy7-vcffilter__3466nr40 19 rs34868972
dbSNP Clinvar 		3753874 3311.57 G A . 0/1 259 SYNONYMOUS_CODING LOW SILENT 0.09185 0.09185 0.11926 None None None None None None APBA3|0.009354531|81.41%

APC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs265273
dbSNP Clinvar 		1467684 7014.6 A C . 1/1 213 SYNONYMOUS_CODING LOW SILENT 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 galaxy7-vcffilter__3466nr40 19 rs1132899
dbSNP Clinvar 		45448036 3503.08 T C . 0/1 293 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66434 0.66430 0.41833 0.46 0.00 None None None None None None APOC4|0.001267277|94.07%,APOC4-APOC2|0.001598854|92.35%
View galaxy7-vcffilter__3466nr40 19 rs5167
dbSNP Clinvar 		45448465 3192.44 T G . 0/1 259 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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%

APOE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs440446
dbSNP Clinvar 		45409167 2902.94 C G . 0/1 242 None None None 0.62620 0.62620 0.00 None None None None None None APOE|0.925476831|2.86%

ARHGAP33
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs231235
dbSNP Clinvar 		36278470 2484.3 C G . 0/1 179 SYNONYMOUS_CODING LOW SILENT 0.53474 0.53470 0.44447 None None None None None None ARHGAP33|0.074124913|56.5%

ARHGEF18
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs9329368
dbSNP Clinvar 		7533850 9084.08 A G . 1/1 277 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83427 0.83430 0.18783 1.00 0.00 None None None None None None ARHGEF18|0.021386843|73.49%
View galaxy7-vcffilter__3466nr40 19 rs10405143
dbSNP Clinvar 		7533767 8985.88 T G . 1/1 274 SYNONYMOUS_CODING LOW SILENT 0.79054 0.79050 0.22986 None None None None None None ARHGEF18|0.021386843|73.49%
View galaxy7-vcffilter__3466nr40 19 rs2287918
dbSNP Clinvar 		7528734 7036.42 A G . 1/1 215 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83247 0.83250 0.19104 0.68 0.00 None None None None None None ARHGEF18|0.021386843|73.49%
View galaxy7-vcffilter__3466nr40 19 rs10422503
dbSNP Clinvar 		7504982 5157.49 C T . 1/1 158 SYNONYMOUS_CODING LOW SILENT 0.34485 0.34480 None None None None None None ARHGEF18|0.021386843|73.49%

ARID3A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs1051504
dbSNP Clinvar 		971933 6425.35 A G . 1/1 204 SYNONYMOUS_CODING LOW SILENT 0.59485 0.59480 0.27105 None None None None None None ARID3A|0.039022569|66.1%
View galaxy7-vcffilter__3466nr40 19 rs1799595
dbSNP Clinvar 		929753 6509.42 A G . 1/1 200 SYNONYMOUS_CODING LOW SILENT 0.88419 0.88420 0.12487 None None None None None None ARID3A|0.039022569|66.1%
View galaxy7-vcffilter__3466nr40 19 rs6510986
dbSNP Clinvar 		966693 5171.08 C T . 1/1 158 SYNONYMOUS_CODING LOW SILENT 0.71486 0.71490 0.18296 None None None None None None ARID3A|0.039022569|66.1%
View galaxy7-vcffilter__3466nr40 19 rs3826948
dbSNP Clinvar 		929678 2242.03 G A . 0/1 189 SYNONYMOUS_CODING LOW SILENT 0.46086 0.46090 0.42350 None None None None None None ARID3A|0.039022569|66.1%
View galaxy7-vcffilter__3466nr40 19 rs1051505
dbSNP Clinvar 		971949 8479.1 G A . 1/1 261 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02935 0.71870 0.17055 0.34 0.00 None None None None None None ARID3A|0.039022569|66.1%
View galaxy7-vcffilter__3466nr40 19 rs12608658
dbSNP Clinvar 		965043 5851.96 T C . 1/1 177 SYNONYMOUS_CODING LOW SILENT 0.93890 0.93890 0.05167 None None None None None None ARID3A|0.039022569|66.1%

ASPDH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs12977172
dbSNP Clinvar 		51015404 5460.83 T C . 1/1 170 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79593 0.79590 0.23869 0.49 0.00 None None None None None None ASPDH|0.011680011|79.47%

ATP1A3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View galaxy7-vcffilter__3466nr40 19 rs2217342
dbSNP Clinvar 		42489516 3513.35 A C . 1/1 107 SYNONYMOUS_CODING LOW SILENT 0.90156 0.90160 0.07028 None None None None None None ATP1A3|0.149065263|43.12%
View galaxy7-vcffilter__3466nr40 19 rs919390
dbSNP Clinvar 		42471050 1142.56 G C . 0/1 115 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71945 0.71940 0.28832 0.00 None None None None None None ATP1A3|0.149065263|43.12%