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Genes:
A1BG, ABCA7, ABHD17A, ABHD8, AC006486.1, AC008686.1, AC010642.1, AC011500.1, AC012313.1, AC018755.1, AC020907.1, AC020922.1, AC024592.12, AC074212.3, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADCK4, AES, AKAP8L, ALDH16A1, AMH, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP3D1, APBA3, APC2, APOE, ARHGEF18, ARID3A, ARMC6, ARRDC2, ARRDC5, ASF1B, ASPDH, ATF5, ATP13A1, ATP1A3, ATP4A, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BAX, BCAM, BCAT2, BCKDHA, BIRC8, BRSK1, BSG, C19orf10, C19orf12, C19orf24, C19orf26, C19orf45, C19orf54, C19orf55, C19orf57, C19orf59, C19orf68, C19orf71, C19orf73, C19orf81, C19orf84, C2CD4C, C3, C5AR1, CA11, CABP5, CACNA1A, CACNG6, CACTIN, CALR, CALR3, CAMSAP3, CAPN12, CARD8, CATSPERG, CC2D1A, CCDC105, CCDC106, CCDC114, CCDC124, CCDC151, CCDC155, CCDC159, CCDC61, CCL25, CD177, CD33, CD37, CD3EAP, CD97, CDC34, CDKN2D, CEACAM1, CEACAM18, CEACAM21, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEP89, CERS1, CERS4, CHAF1A, CHERP, CIB3, CIC, CILP2, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC4G, CLEC4M, CLPTM1, CNN2, CNOT3, CNTD2, COL5A3, COLGALT1, COPE, CPAMD8, CPT1C, CRB3, CRLF1, CRTC1, CSNK1G2, CTC-360G5.8, CTD-2368P22.1, CTD-3193O13.9, CYP2A6, CYP2A7, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DAPK3, DCAF15, DEDD2, DENND1C, DHDH, DKKL1, DLL3, DMKN, DMRTC2, DMWD, DNAAF3, DNASE2, DNMT1, DOCK6, DOT1L, DPY19L3, EBI3, ECH1, EEF2, EGLN2, EHD2, EID2, EID2B, EIF3G, ELAVL1, EMC10, EML2, EMR1, EMR2, EMR3, ERCC1, ERCC2, ERF, ERVV-2, ETFB, ETHE1, EVI5L, EXOSC5, FAM129C, FAM187B, FAM71E2, FBN3, FBXO17, FCAR, FCER2, FCGBP, FCGRT, FCHO1, FDX1L, FFAR1, FFAR3, FGF22, FIZ1, FLT3LG, FOSB, FOXA3, FPR1, FPR3, FSD1, FSTL3, FTL, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD3, FXYD5, FXYD7, GADD45B, GALP, GATAD2A, GCDH, GDF1, GDF15, GFY, GIPC1, GIPR, GLTSCR1, GLTSCR2, GNA11, GNA15, GNG8, GP6, GPATCH1, GPR108, GPX4, GRAMD1A, GRIN2D, GRIN3B, GRWD1, GSK3A, GTPBP3, GZMM, HAPLN4, HAS1, HAUS5, HCN2, HDGFRP2, HIF3A, HKR1, HMHA1, HNRNPL, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HRC, HSD17B14, HSH2D, HSPBP1, ICAM1, ICAM3, ICAM5, IFI30, IFNL3, IL11, IL12RB1, IL27RA, IL4I1, ILF3, ILVBL, INSL3, INSR, IRF2BP1, IRF3, IRGQ, ITPKC, JAK3, JSRP1, KANK2, KANK3, KCNA7, KCNC3, KDM4B, KEAP1, KHSRP, KIAA0355, KIAA1683, KIR2DL1, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, KIRREL2, KLC3, KLF1, KLF2, KLHL26, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK7, KLK8, KLK9, KMT2B, KPTN, KRI1, KXD1, LAIR1, LDLR, LENG1, LENG8, LENG9, LGALS14, LGALS16, LGI4, LHB, LILRA3, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LIN7B, LIPE, LMNB2, LMTK3, LONP1, LPAR2, LPHN1, LPPR3, LRP3, LRRC25, LRRC4B, LRRC8E, LSR, LTBP4, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP3K10, MARCH2, MARK4, MAST1, MAST3, MAU2, MBD3L1, MBOAT7, MCOLN1, MED16, MEGF8, MFSD12, MIDN, MIER2, MISP, MPND, MRPL54, MUC16, MUM1, MVB12A, MYBPC2, MYH14, MYO9B, MYPOP, MZF1, NANOS3, NCLN, NDUFA11, NDUFA3, NDUFA7, NDUFS7, NFIC, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOTCH3, NPAS1, NR1H2, NR2F6, NTF4, NTN5, NUCB1, NUDT19, NUP62, NWD1, NXNL1, OCEL1, ODF3L2, OLFM2, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A17, OR7C1, OR7C2, OR7E24, OR7G2, OR7G3, OSCAR, OVOL3, PAK4, PALM, PALM3, PAPL, PCP2, PDCD2L, PDE4C, PEG3, PEX11G, PGLS, PHLDB3, PIAS4, PIH1D1, PIK3R2, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLIN5, PLK5, PNMAL1, PNMAL2, PNPLA6, POLD1, POLR2E, POLRMT, PPAN-P2RY11, PPAP2C, PPFIA3, PPM1N, PPP1R15A, PPP1R37, PPP5C, PRAM1, PRKCG, PRKCSH, PRKD2, PRR12, PRRG2, PRSS57, PRX, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PTBP1, PTGER1, PTGIR, PTH2, PTOV1, PTPRH, PTPRS, PVR, PVRL2, RAB11B, RAB3A, RAB3D, RAB4B, RAB8A, RASIP1, RAVER1, RCN3, RDH13, RDH8, REXO1, RFPL4A, RFPL4AL1, RFX1, RFX2, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RNF126, RPL28, RPS16, RPS5, RRAS, RSPH6A, RTBDN, RYR1, S1PR2, S1PR4, S1PR5, SAE1, SAMD1, SBK2, SBK3, SBNO2, SBSN, SCAF1, SDHAF1, SELV, SERTAD1, SERTAD3, SH3GL1, SHANK1, SHD, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC1A6, SLC25A42, SLC27A1, SLC35E1, SLC39A3, SLC44A2, SLC6A16, SLC7A9, SLC8A2, SMARCA4, SNAPC2, SNRPA, SPIB, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STXBP2, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SYDE1, SYMPK, SYNE4, SYT3, TARM1, TBC1D17, TBXA2R, TCF3, TDRD12, TEX101, TGFB1, THAP8, THEG, THOP1, TICAM1, TIMM44, TIMM50, TJP3, TMC4, TMEM143, TMEM150B, TMEM161A, TMEM221, TMEM238, TMEM259, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFSF14, TNNI3, TNNT1, TOMM40, TPGS1, TPRX1, TPRX2P, TRAPPC5, TRIM28, TRPM4, TSEN34, TSHZ3, TSKS, TSSK6, TUBB4A, TYROBP, U2AF2, UBA2, UBA52, UBE2S, UBXN6, UNC13A, UPF1, UQCRFS1, URI1, USE1, USF2, USHBP1, USP29, VN1R2, VN1R4, VSIG10L, WDR18, WDR62, WDR87, WDR88, WTIP, XAB2, XRCC1, YIPF2, ZBTB32, ZFP28, ZFP82, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF112, ZNF132, ZNF134, ZNF135, ZNF14, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF180, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF227, ZNF229, ZNF233, ZNF235, ZNF256, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF317, ZNF320, ZNF324, ZNF331, ZNF333, ZNF347, ZNF350, ZNF358, ZNF382, ZNF404, ZNF414, ZNF415, ZNF416, ZNF417, ZNF429, ZNF432, ZNF433, ZNF439, ZNF440, ZNF441, ZNF443, ZNF446, ZNF45, ZNF460, ZNF470, ZNF471, ZNF480, ZNF486, ZNF490, ZNF493, ZNF497, ZNF507, ZNF524, ZNF526, ZNF527, ZNF528, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF541, ZNF543, ZNF544, ZNF547, ZNF548, ZNF549, ZNF550, ZNF552, ZNF554, ZNF555, ZNF557, ZNF559, ZNF564, ZNF565, ZNF567, ZNF568, ZNF57, ZNF571, ZNF573, ZNF577, ZNF578, ZNF579, ZNF580, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587B, ZNF600, ZNF606, ZNF607, ZNF610, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF627, ZNF628, ZNF66, ZNF665, ZNF667, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF69, ZNF701, ZNF708, ZNF709, ZNF714, ZNF724P, ZNF729, ZNF730, ZNF737, ZNF765, ZNF77, ZNF787, ZNF788, ZNF792, ZNF793, ZNF799, ZNF8, ZNF808, ZNF813, ZNF83, ZNF837, ZNF845, ZNF85, ZNF850, ZNF865, ZNF880, ZNF91, ZNF98, ZNRF4, ZSCAN1, ZSCAN4, ZSCAN5B, ZSCAN5C, ZSCAN5D, ZSWIM4, hsa-mir-1199, hsa-mir-150,

Genes at Omim

ABCA7, ACTN4, ADAMTS10, ADAT3, AMH, AP3D1, APC2, APOE, ARHGEF18, ATP1A3, AURKC, B9D2, BAX, BCAT2, BCKDHA, BSG, C19orf12, C3, CACNA1A, CALR, CC2D1A, CCDC114, CCDC151, CERS1, CIC, CLEC4M, COLGALT1, CPAMD8, CPT1C, CRLF1, CRTC1, CYP2A6, DLL3, DNAAF3, DNMT1, DOCK6, EEF2, ERCC1, ERCC2, ERF, ETFB, ETHE1, FDX1L, FTL, FUT2, FUT3, FUT6, FUZ, GCDH, GDF1, GIPR, GNA11, GP6, GPX4, GRIN2D, GTPBP3, ICAM1, IFNL3, IL12RB1, INSL3, INSR, IRF3, ITPKC, JAK3, KANK2, KCNC3, KIR3DL1, KLF1, KLK1, KLK4, KMT2B, KPTN, LDLR, LGI4, LHB, LIPE, LMNB2, LONP1, LTBP4, MAG, MAN2B1, MAP2K2, MAST1, MBOAT7, MCOLN1, MEGF8, MYH14, MYO9B, NDUFA11, NDUFS7, NLRP12, NOTCH3, NTF4, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKCG, PRKCSH, PRX, RAB11B, RFXANK, RGS9BP, RYR1, S1PR2, SDHAF1, SH3GL1, SIPA1L3, SIX5, SLC7A9, SMARCA4, SPTBN4, STXBP2, SULT2B1, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TIMM50, TNNI3, TNNT1, TRPM4, TSEN34, TUBB4A, TYROBP, 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)
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)
AURKC Spermatogenic failure 5, 243060 (3)
B9D2 Joubert syndrome 34, 614175 (3)
?Meckel syndrome 10, 614175 (3)
BAX Colorectal cancer, somatic, 114500 (3)
T-cell acute lymphoblastic leukemia, somatic, 613065 (3)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
BSG [Blood group, OK], 111380 (3)
C19orf12 Neurodegeneration with brain iron accumulation 4, 614298 (3)
?Spastic paraplegia 43, autosomal recessive, 615043 (3)
C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
C3 deficiency, 613779 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CALR Myelofibrosis, somatic, 254450 (3)
Thrombocythemia, somatic, 187950 (3)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC151 Ciliary dyskinesia, primary, 30, 616037 (3)
CERS1 ?Epilepsy, progressive myoclonic, 8, 616230 (3)
CIC Mental retardation, autosomal dominant 45, 617600 (3)
CLEC4M SARS infection, protection against (2)
COLGALT1 Brain small vessel disease 3, 618360 (3)
CPAMD8 Anterior segment dysgenesis 8, 617319 (3)
CPT1C ?Spastic paraplegia 73, autosomal dominant, 616282 (3)
CRLF1 Cold-induced sweating syndrome 1, 272430 (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)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ERCC2 ?Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Xeroderma pigmentosum, group D, 278730 (3)
ERF Chitayat syndrome, 617180 (3)
Craniosynostosis 4, 600775 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
ETHE1 Ethylmalonic encephalopathy, 602473 (3)
FDX1L Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3)
FTL Hyperferritinemia-cataract syndrome, 600886 (3)
L-ferritin deficiency, dominant and recessive, 615604 (3)
Neurodegeneration with brain iron accumulation 3, 606159 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
FUZ {Neural tube defects, susceptibility to}, 182940 (3)
GCDH Glutaricaciduria, type I, 231670 (3)
GDF1 Congenital heart defects, multiple types, 6, 613854 (3)
Right atrial isomerism (Ivemark), 208530 (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)
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)
ITPKC {Kawasaki disease, susceptibility to}, 611775 (3)
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
KANK2 Nephrotic syndrome, type 16, 617783 (3)
Palmoplantar keratoderma and woolly hair, 616099 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KLF1 Blood group--Lutheran inhibitor, 111150 (3)
Dyserythropoietic anemia, congenital, type IV, 613673 (3)
[Hereditary persistence of fetal hemoglobin], 613566 (3)
KLK1 [Kallikrein, decreased urinary activity of], 615953 (3)
KLK4 Amelogenesis imperfecta, type IIA1, 204700 (3)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
KPTN Mental retardation, autosomal recessive 41, 615637 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LGI4 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LHB Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)
LIPE Lipodystrophy, familial partial, type 6, 615980 (3)
LMNB2 {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
?Epilepsy, progressive myoclonic, 9, 616540 (3)
LONP1 CODAS syndrome, 600373 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAG Spastic paraplegia 75, autosomal recessive, 616680 (3)
MAN2B1 Mannosidosis, alpha-, types I and II, 248500 (3)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
MBOAT7 Mental retardation, autosomal recessive 57, 617188 (3)
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)
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)
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)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIP5K1C Lethal congenital contractural syndrome 3, 611369 (3)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PNPLA6 Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
?Laurence-Moon syndrome, 245800 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
{Colorectal cancer, susceptibility to, 10}, 612591 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
RAB11B Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3)
RFXANK MHC class II deficiency, complementation group B, 209920 (3)
RGS9BP Bradyopsia, 608415 (3)
RYR1 Central core disease, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
S1PR2 Deafness, autosomal recessive 68, 610419 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SIPA1L3 ?Cataract 45, 616851 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC7A9 Cystinuria, 220100 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SPTBN4 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
SULT2B1 Ichthyosis, congenital, autosomal recessive 14, 617571 (3)
SYNE4 Deafness, autosomal recessive 76, 615540 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TGFB1 Camurati-Engelmann disease, 131300 (3)
Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TICAM1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TIMM50 3-methylglutaconic aciduria, type IX, 617698 (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)
TYROBP Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 (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, AURKC, B9D2, BCAM, BCKDHA, BSG, C3, CACNA1A, CALR3, CC2D1A, CCDC114, CCDC151, CERS1, CPT1C, CRLF1, CYP2A6, CYP4F2, DLL3, DNMT1, DOCK6, ERCC1, ERCC2, ERF, ETFB, ETHE1, FTL, FUT3, FUT6, FUZ, GCDH, GDF1, GNA11, GP6, GPX4, GTPBP3, IFNL3, IL12RB1, INSL3, INSR, IRF3, JAK3, KANK2, KCNC3, KLF1, KLK4, KPTN, LDLR, LHB, LIPE, LMNB2, LONP1, LTBP4, MAG, MAN2B1, MAP2K2, MCOLN1, MEGF8, MYH14, NDUFA11, NDUFS7, NLRP12, NLRP7, NOTCH3, NTF4, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKCG, PRKCSH, PRX, RFXANK, RGS9BP, RYR1, S1PR2, SDHAF1, SIPA1L3, SIX5, SLC7A9, SMARCA4, STXBP2, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TNNI3, TNNT1, TRPM4, TSEN34, TUBB4A, TYROBP, 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
AURKC Spermatogenic failure 5
B9D2 Meckel syndrome 10
BCAM Blood group, Lutheran system
Blood group, Auberger system
Lutheran, null
BCKDHA Maple syrup urine disease, type Ia
BSG Blood group, OK
C3 Complement component 3 deficiency, autosomal recessive
Hemolytic uremic syndrome, atypical, susceptibility to, 5
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CALR3 Cardiomyopathy, familial hypertrophic, 19
CC2D1A Mental retardation, autosomal recessive 3
CCDC114 Ciliary dyskinesia, primary, 20
CCDC151 Ciliary dyskinesia, primary,30
CERS1 Epilepsy, progressive myoclonic 8
CPT1C Spastic paraplegia 73, autosomal dominant
CRLF1 Crisponi syndrome
Cold-induced sweating syndrome, type 1
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
ERCC1 Cerebrooculofacioskeletal syndrome 4
ERCC2 Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
ERF Craniosynostosis 4
ETFB Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
ETHE1 Ethylmalonic encephalopathy
FTL L-ferritin deficiency
Neurodegeneration with brain iron accumulation 3
Hyperferritinemia-cataract syndrome
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
FUZ Neural tube defects, susceptibility to
GCDH Glutaric aciduria, type I
GDF1 Transposition of the great arteries, dextro-looped 3
Double-outlet right ventricle
GNA11 Hypocalcemia 2, autosomal dominant
Hypocalciuric hypercalcemia, autosomal dominant
GP6 Bleeding disorder, platelet-type, 11
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GTPBP3 Combined oxidative phosphorylation deficiency 23
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
JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
KANK2 Palmoplantar keratoderma and woolly hair
KCNC3 Spinocerebellar ataxia 13
KLF1 Anemia, dyserythropoietic congenital, type IV
Blood group, Lutheran inhibitor
KLK4 Amelogenesis imperfecta, type IIA1
KPTN Mental retardation, autosomal recessive 41
LDLR Hypercholesterolemia, familial
LHB Hypogonadotropic hypogonadism 23 with or without anosmia
LIPE Abdominal obesity-metabolic syndrome 4
LMNB2 Liopdystrophy, partial, acquired
Epilepsy, progressive myoclonic, 9
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
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)
NTF4 Glaucoma 1, open angle, O
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
POLD1 Colorectal cancer, susceptibility to, 10
PRKCG Spinocerebellar ataxia 14
PRKCSH Polycystic liver disease
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
RFXANK MHC class II deficiency
RGS9BP Bradyopsia
RYR1 Malignant hyperthermia, susceptibility 1
Central core disease
Minicore myopathy
Multicore myopathy
Minicore myopathy with external ophthalmoplegia
Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
S1PR2 Deafness, autosomal recessive 68
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
SIX5 Branchiootorenal syndrome 2
SLC7A9 Cystinuria
SMARCA4 Rhabdoid tumor predisposition syndrome 2
STXBP2 Hemophagocytic lymphohistiocytosis, familial 5
SYNE4 Deafness, autosomal recessive, 76
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF3 Agammaglobulinemia 8, autosomal dominant
TGFB1 Camurati-Engelmann disease
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
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
TYROBP Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Nasu-Hakola disease
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2 Schizophrenia
ZNF480 Schizophrenia
ZNF565 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 8628
Number of Genes: 816

Export to: CSV

A1BG

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs893184
dbSNP Clinvar
58864479 6755060.77 T C PASS 1/1 54 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
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View 94533-0209701724_ms_onbait 19 rs3752234
dbSNP Clinvar
1047002 2190624.43 A G PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.57887 0.57890 0.46635 None None None None None None ABCA7|0.007770288|82.8%
View 94533-0209701724_ms_onbait 19 rs3752237
dbSNP Clinvar
1047161 4870193.17 A G PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.37591 None None None None None None ABCA7|0.007770288|82.8%
View 94533-0209701724_ms_onbait 19 rs4147914
dbSNP Clinvar
1049269 523570.98 G A PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.24062 0.24060 0.15286 None None None None None None ABCA7|0.007770288|82.8%

ABHD17A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs4807160
dbSNP Clinvar
1880950 1091842.19 T C PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.63099 0.63100 0.36662 1.00 0.00 None None None None None None ABHD17A|0.044405191|64.37%

ABHD8

Omim - GeneCards - NCBI
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View 94533-0209701724_ms_onbait 19 rs147808769
dbSNP Clinvar
17412365 9813.82 C T PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00195 0.00 1.00 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%
View 94533-0209701724_ms_onbait 19 rs11086066
dbSNP Clinvar
17412366 592568.79 G A PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.23702 0.23700 0.24633 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%
View 94533-0209701724_ms_onbait 19 rs11086067
dbSNP Clinvar
17412399 434550.49 G A PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.23862 0.23860 0.24494 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%

AC006486.1

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View 94533-0209701724_ms_onbait 19 rs11878620
dbSNP Clinvar
42747229 902581.74 G A PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.11302 0.11300 0.00 None None None None None None None
View 94533-0209701724_ms_onbait 19 rs117970118
dbSNP Clinvar
42747230 773378.73 G C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.07268 0.07268 0.00 None None None None None None None

AC008686.1

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View 94533-0209701724_ms_onbait 19 . 13899041 344291.48 CT... CT... PASS 1/2 10 FRAME_SHIFT HIGH None None None None None None None None

AC010642.1

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View 94533-0209701724_ms_onbait 19 rs260501
dbSNP Clinvar
58790807 222597.57 T G PASS 1/1 7 SYNONYMOUS_CODING LOW None 0.60663 0.60660 None None None None None None ZNF8|0.004857832|86%
View 94533-0209701724_ms_onbait 19 rs374431
dbSNP Clinvar
58790713 1820064.76 G C PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.60623 0.60620 0.00 0.00 None None None None None None ZNF8|0.004857832|86%
View 94533-0209701724_ms_onbait 19 rs437229
dbSNP Clinvar
58790675 2457372.9 T C PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.64477 0.64480 None None None None None None ZNF8|0.004857832|86%

AC011500.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs1865091
dbSNP Clinvar
39932066 907175.38 T C PASS 0/1 11 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

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View 94533-0209701724_ms_onbait 19 rs13343526
dbSNP Clinvar
58908150 2100462.03 C G PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.85503 0.85500 1.00 0.00 None None None None None None None

AC018755.1

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View 94533-0209701724_ms_onbait 19 rs58301181
dbSNP Clinvar
52097261 652581.39 C G PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.09265 0.09265 0.02 None None None None None None None
View 94533-0209701724_ms_onbait 19 rs35740364
dbSNP Clinvar
52097401 2710205.95 T C PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.16913 0.16910 None None None None None None None

AC020907.1

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View 94533-0209701724_ms_onbait 19 rs2445826
dbSNP Clinvar
35597352 3561457.08 T C PASS 1/1 31 SYNONYMOUS_CODING LOW None 0.99101 0.99100 None None None None None None None
View 94533-0209701724_ms_onbait 19 rs10424084
dbSNP Clinvar
35597462 3567201.36 A G PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.48742 0.48740 0.63 0.00 None None None None None None None
View 94533-0209701724_ms_onbait 19 rs10423723
dbSNP Clinvar
35597620 3971594.77 C T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.48722 0.48720 0.07 0.00 None None None None None None None
View 94533-0209701724_ms_onbait 19 rs7258700
dbSNP Clinvar
35597729 1888597.95 C T PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.48363 0.48360 1.00 0.00 None None None None None None None

AC020922.1

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View 94533-0209701724_ms_onbait 19 rs10405231
dbSNP Clinvar
55856211 1544221.93 C T PASS 0/1 57 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs778971
dbSNP Clinvar
5867748 3838858.39 G T PASS 0/1 152 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 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
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View 94533-0209701724_ms_onbait 19 rs77185077
dbSNP Clinvar
46259293 53980.14 G A PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.02077 0.02077 0.11 0.55 None None None None None None None
View 94533-0209701724_ms_onbait 19 rs8112282
dbSNP Clinvar
46265029 1229461.6 C T PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.53674 0.53670 None None None None None None None
View 94533-0209701724_ms_onbait 19 . 46265047 824127.27 AT... AT... PASS 1/1 12 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None None

ACSBG2

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View 94533-0209701724_ms_onbait 19 rs4807840
dbSNP Clinvar
6156483 2964080.32 T C PASS 0/1 152 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs4804079
dbSNP Clinvar
8808373 2720093.72 G T PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.60004 0.60000 0.47201 0.51 0.87 None None None None None None ACTL9|0.004666462|86.26%
View 94533-0209701724_ms_onbait 19 rs2340550
dbSNP Clinvar
8808942 3229240.51 A G PASS 1/1 41 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 94533-0209701724_ms_onbait 19 rs10410943
dbSNP Clinvar
8808900 3593079.1 A G PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.79173 0.79170 0.27926 1.00 0.00 None None None None None None ACTL9|0.004666462|86.26%

ACTN4

Omim - GeneCards - NCBI
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View 94533-0209701724_ms_onbait 19 rs11553600
dbSNP Clinvar
39196736 1392925.01 G A PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.11542 0.11540 0.15316 None None None None None None ACTN4|0.387377198|21.58%
View 94533-0209701724_ms_onbait 19 rs1136956
dbSNP Clinvar
39219780 1556721.43 T C PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.18750 0.18750 0.21375 None None None None None None ACTN4|0.387377198|21.58%

ADAMTS10

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs7252299
dbSNP Clinvar
8645786 1811806.52 A C PASS 1/1 23 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 94533-0209701724_ms_onbait 19 rs4476282
dbSNP Clinvar
8651562 1177557.02 A G PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.18470 0.18470 0.21728 None None None None None None ADAMTS10|0.099701531|51.23%
View 94533-0209701724_ms_onbait 19 rs7255721
dbSNP Clinvar
8669931 3580330.87 G C PASS 0/1 130 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
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View 94533-0209701724_ms_onbait 19 rs265291
dbSNP Clinvar
1510661 1266616.26 A G PASS 1/1 14 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
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View 94533-0209701724_ms_onbait 19 rs35870594
dbSNP Clinvar
1912817 451921.34 C T PASS 0/1 90 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%
View 94533-0209701724_ms_onbait 19 rs12984675
dbSNP Clinvar
1912934 1811676.29 T C PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.36322 0.36320 0.24623 None None None None None None SCAMP4|0.018776981|74.82%,ADAT3|0.006291951|84.29%

ADCK4

Omim - GeneCards - NCBI
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View 94533-0209701724_ms_onbait 19 rs3865452
dbSNP Clinvar
41211056 1286631.11 T C PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.47744 0.47740 0.45248 0.53 0.00 None None None None None None ADCK4|0.043749388|64.59%

AES

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs2302301
dbSNP Clinvar
3054089 313358.28 C T PASS 0/1 5 None None None 0.15136 0.15140 0.65 0.00 None None None None None None AES|0.064359463|58.79%

AKAP8L

Omim - GeneCards - NCBI
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View 94533-0209701724_ms_onbait 19 rs2058322
dbSNP Clinvar
15508362 4128113.52 G C PASS 1/1 47 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs1320303
dbSNP Clinvar
49964977 1986570.63 C G PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.51018 0.51020 0.34881 1.00 0.00 None None None None None None ALDH16A1|0.021103617|73.62%
View 94533-0209701724_ms_onbait 19 rs2293009
dbSNP Clinvar
49967680 4291484.99 G A PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.31150 0.31150 0.32921 None None None None None None ALDH16A1|0.021103617|73.62%
View 94533-0209701724_ms_onbait 19 rs7259560
dbSNP Clinvar
49965173 794350.91 A T PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.30092 0.30090 0.32176 None None None None None None ALDH16A1|0.021103617|73.62%
View 94533-0209701724_ms_onbait 19 rs116631301
dbSNP Clinvar
49969522 5930.49 C T PASS 0/1 28 SYNONYMOUS_CODING LOW None 0.00879 0.00879 0.01192 None None None None None None ALDH16A1|0.021103617|73.62%

AMH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs10407022
dbSNP Clinvar
2249477 2788719.7 G T PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.67592 0.67590 0.26055 0.00 0.37 None None None None None None AMH|0.062219269|59.26%
View 94533-0209701724_ms_onbait 19 rs10417628
dbSNP Clinvar
2251817 4303879.05 T C PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.99002 0.99000 0.01798 0.77 0.00 None None None None None None AMH|0.062219269|59.26%
View 94533-0209701724_ms_onbait 19 rs7252789
dbSNP Clinvar
2251512 813353.78 T A PASS 1/1 15 SYNONYMOUS_CODING LOW None 0.91893 0.91890 None None None None None None AMH|0.062219269|59.26%
View 94533-0209701724_ms_onbait 19 rs201324658
dbSNP Clinvar
2250985 388.6 A G PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.10 None None None None None None AMH|0.062219269|59.26%

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 94533-0209701724_ms_onbait 19 rs1465582
dbSNP Clinvar
17397501 152971.34 T G PASS 1/1 9 None None None 0.31590 0.31590 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View 94533-0209701724_ms_onbait 19 rs8100241
dbSNP Clinvar
17392894 810607.14 G A PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.42732 0.42730 0.43512 0.01 0.88 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View 94533-0209701724_ms_onbait 19 rs1864116
dbSNP Clinvar
17393015 484829.52 C T PASS 1/1 7 NON_SYNONYMOUS_CODING MODERATE None 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 94533-0209701724_ms_onbait 19 rs1864113
dbSNP Clinvar
17393504 917493.78 G C PASS 1/1 8 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 94533-0209701724_ms_onbait 19 rs8108174
dbSNP Clinvar
17393530 683389.2 T A PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE None 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 94533-0209701724_ms_onbait 19 rs2363956
dbSNP Clinvar
17394124 1947376.35 T G PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.46066 0.46070 0.48747 0.03 1.00 None None None None None None ANKLE1|0.002494569|89.7%
View 94533-0209701724_ms_onbait 19 rs891017
dbSNP Clinvar
17394504 9162093.69 A C PASS 1/1 153 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 94533-0209701724_ms_onbait 19 rs11086065
dbSNP Clinvar
17395003 3841414.69 A G PASS 1/1 54 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 94533-0209701724_ms_onbait 19 rs11882562
dbSNP Clinvar
17395055 2789898.7 C G PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19922 None None None None None None ANKLE1|0.002494569|89.7%
View 94533-0209701724_ms_onbait 19 rs751599
dbSNP Clinvar
17396549 4211221.69 T C PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19937 None None None None None None ANKLE1|0.002494569|89.7%
View 94533-0209701724_ms_onbait 19 rs139615873
dbSNP Clinvar
17392630 70861.09 G GC PASS 0/1 18 None None None 0.02276 0.02276 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 94533-0209701724_ms_onbait 19 rs1963331
dbSNP Clinvar
4198154 563430.58 C T PASS 0/1 8 SYNONYMOUS_CODING LOW None 0.31689 0.31690 None None None None None None ANKRD24|0.006993334|83.48%
View 94533-0209701724_ms_onbait 19 rs2052191
dbSNP Clinvar
4200156 840244.4 G A PASS 0/1 19 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 94533-0209701724_ms_onbait 19 rs12978469
dbSNP Clinvar
4210356 1017448.89 G A PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.61282 0.61280 0.37995 0.11 0.01 None None None None None None ANKRD24|0.006993334|83.48%
View 94533-0209701724_ms_onbait 19 rs10413818
dbSNP Clinvar
4216910 2368210.03 G A PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.71166 0.71170 0.27616 0.11 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View 94533-0209701724_ms_onbait 19 rs353693
dbSNP Clinvar
4217207 4903779.27 T G PASS 1/1 60 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 94533-0209701724_ms_onbait 19 rs6510794
dbSNP Clinvar
4217956 441696.17 A G PASS 0/1 7 SYNONYMOUS_CODING LOW None 0.45048 0.45050 0.37911 None None None None None None ANKRD24|0.006993334|83.48%

ANKRD27

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs2302970
dbSNP Clinvar
33098632 848772.88 G C PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.26518 0.26520 0.41619 0.79 0.01 None None None None None None ANKRD27|0.115031878|48.32%
View 94533-0209701724_ms_onbait 19 rs2287669
dbSNP Clinvar
33110204 1761862.3 T C PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.46026 0.46030 0.44710 0.22 0.08 None None None None None None ANKRD27|0.115031878|48.32%
View 94533-0209701724_ms_onbait 19 rs405858
dbSNP Clinvar
33106621 2935337.2 C T PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.48083 0.48080 0.38974 None None None None None None ANKRD27|0.115031878|48.32%
View 94533-0209701724_ms_onbait 19 rs6510271
dbSNP Clinvar
33117666 2734165.95 T C PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.65196 0.65200 0.34084 None None None None None None ANKRD27|0.115031878|48.32%

ANO8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs755123
dbSNP Clinvar
17435884 5244401.98 T C PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.61881 0.61880 0.24758 None None None None None None ANO8|0.037387399|66.65%
View 94533-0209701724_ms_onbait 19 rs56286266
dbSNP Clinvar
17435887 2240054.73 C T PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.24621 0.24620 0.27157 None None None None None None ANO8|0.037387399|66.65%
View 94533-0209701724_ms_onbait 19 rs8102944
dbSNP Clinvar
17438642 8863169.98 A G PASS 0/1 100 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
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs3752797
dbSNP Clinvar
16339715 6722195.88 C T PASS 1/1 158 SYNONYMOUS_CODING LOW None 0.45208 0.45210 0.44187 None None None None None None AP1M1|0.058029862|60.39%

AP3D1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs20567
dbSNP Clinvar
2110746 443838.56 G A PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.32508 0.32510 0.29864 None None None None None None AP3D1|0.055098943|61.17%
View 94533-0209701724_ms_onbait 19 rs25672
dbSNP Clinvar
2138654 2203286.62 T G PASS 0/1 138 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs8102086
dbSNP Clinvar
3752874 2420828.99 A G PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.04153 0.04153 0.49646 0.23 0.00 None None None None None None APBA3|0.009354531|81.41%
View 94533-0209701724_ms_onbait 19 rs147130540
dbSNP Clinvar
3752601 68259.85 G A PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.01138 0.01138 0.01506 0.00 1.00 None None None None None None APBA3|0.009354531|81.41%
View 94533-0209701724_ms_onbait 19 rs61731066
dbSNP Clinvar
3754020 186307.91 G C PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.01717 0.01717 0.02514 None None None None None None APBA3|0.009354531|81.41%

APC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs265273
dbSNP Clinvar
1467684 2007809.3 A C PASS 1/1 15 SYNONYMOUS_CODING LOW None 0.97584 0.97580 None None None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%

APOE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs440446
dbSNP Clinvar
45409167 1031399.99 C G PASS 1/1 8 None None None 0.62620 0.62620 0.00 None None None None None None APOE|0.925476831|2.86%
View 94533-0209701724_ms_onbait 19 rs429358
dbSNP Clinvar
45411941 139303.04 T C PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.15056 0.15060 0.14163 1.00 0.00 None None None None None None APOE|0.925476831|2.86%

ARHGEF18

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs10422503
dbSNP Clinvar
7504982 2049090.61 C T PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.34485 0.34480 None None None None None None ARHGEF18|0.021386843|73.49%
View 94533-0209701724_ms_onbait 19 rs2287918
dbSNP Clinvar
7528734 1528278.53 A G PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.83247 0.83250 0.19104 0.68 0.00 None None None None None None ARHGEF18|0.021386843|73.49%
View 94533-0209701724_ms_onbait 19 rs10405143
dbSNP Clinvar
7533767 2680429.44 T G PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.79054 0.79050 0.22986 None None None None None None ARHGEF18|0.021386843|73.49%
View 94533-0209701724_ms_onbait 19 rs9329368
dbSNP Clinvar
7533850 3590728.87 A G PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.83427 0.83430 0.18783 1.00 0.00 None None None None None None ARHGEF18|0.021386843|73.49%

ARID3A

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 94533-0209701724_ms_onbait 19 rs6510986
dbSNP Clinvar
966693 2994883.79 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.71486 0.71490 0.18296 None None None None None None ARID3A|0.039022569|66.1%
View 94533-0209701724_ms_onbait 19 rs1051505
dbSNP Clinvar
971949 2460848.35 G A PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.02935 0.71870 0.17055 0.34 0.00 None None None None None None ARID3A|0.039022569|66.1%
View 94533-0209701724_ms_onbait 19 rs1051504
dbSNP Clinvar
971933 1776475.57 A G PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.59485 0.59480 0.27105 None None None None None None ARID3A|0.039022569|66.1%
View 94533-0209701724_ms_onbait 19 rs12608658
dbSNP Clinvar
965043 2798257.82 T C PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.93890 0.93890 0.05167 None None None None None None ARID3A|0.039022569|66.1%

ARMC6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs12979565
dbSNP Clinvar
19150183 404733.81 C T PASS 0/1 37 None None None 0.70188 0.70190 None None None None None None ARMC6|0.011162271|79.89%
View 94533-0209701724_ms_onbait 19 rs142816550
dbSNP Clinvar
19164983 35292.34 C T PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.00799 0.00799 0.01422 None None None None None None ARMC6|0.011162271|79.89%

ARRDC2

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 94533-0209701724_ms_onbait 19 rs113540008
dbSNP Clinvar
18112361 55644.33 C T PASS 0/1 12 None None None 0.03994 0.03994 0.04335 0.17 0.87 None None None None None None ARRDC2|0.008925773|81.73%

ARRDC5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs754544978
dbSNP Clinvar
4896755 959.52 G C PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.30 0.06 None None None None None None ARRDC5|0.003994483|87.03%

ASF1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs8102267
dbSNP Clinvar
14231325 655176.41 C G PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.20168 0.20170 0.20175 None None None None None None ASF1B|0.250445793|31.49%
View 94533-0209701724_ms_onbait 19 rs8102698
dbSNP Clinvar
14231330 667609.3 A G PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.19728 0.19730 0.19883 None None None None None None ASF1B|0.250445793|31.49%

ASPDH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs12977172
dbSNP Clinvar
51015404 2009209.18 T C PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.79593 0.79590 0.23869 0.49 0.00 None None None None None None ASPDH|0.011680011|79.47%

ATF5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 94533-0209701724_ms_onbait 19 rs283526
dbSNP Clinvar
50435862 1383097.14 C T PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.66853 0.66850 0.35644 0.46 0.00 None None None None None None ATF5|0.036517544|66.96%
View 94533-0209701724_ms_onbait 19 rs283525
dbSNP Clinvar
50435747 2147922.26 T C PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.66813 0.66810 0.38590 None None None None None None ATF5|0.036517544|66.96%