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Genes:
A1BG, ABCA7, ABHD8, ACP5, ACPT, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADCK4, AKAP8L, ALDH16A1, AMH, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP2S1, AP3D1, APBA3, APOC4, ARHGAP33, ARHGEF18, ARID3A, ARRDC2, ARRDC5, ATF5, ATP13A1, ATP1A3, ATP8B3, AURKC, AXL, B3GNT8, B9D2, BABAM1, BCAM, BCKDHA, BCL2L12, BSG, BSPH1, C19orf10, C19orf12, C19orf24, C19orf26, C19orf35, C19orf38, C19orf40, C19orf45, C19orf48, C19orf54, C19orf55, C19orf57, C19orf73, C2CD4C, C3, C5AR1, CABP5, CACNA1A, CACNG8, CACTIN, CALR3, CAPN12, CARD8, CARM1, CATSPERG, CC2D1A, CCDC105, CCDC106, CCDC114, CCDC124, CCDC151, CCDC155, CCDC159, CCDC61, CCDC9, CCDC94, CCL25, CCNE1, CD177, CD22, CD33, CD37, CDC42EP5, CDKN2D, CEACAM18, CEACAM21, CEACAM5, CEACAM7, CEBPA, CEP89, CERS1, CERS4, CHAF1A, CHERP, CHMP2A, CIB3, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC4M, CLPTM1, CNN2, CNOT3, CNTD2, COL5A3, COLGALT1, COPE, CPAMD8, CRLF1, CRTC1, CTB-102L5.4, CTB-54O9.9, CYP2A6, CYP2A7, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, DAZAP1, DCAF15, DENND1C, DHDH, DKKL1, DLL3, DMKN, DMRTC2, DNAAF3, DNAJB1, DNMT1, DOCK6, DOHH, DPP9, DPY19L3, DUS3L, EBI3, ECH1, EEF2, EHD2, EID2, EID2B, EIF3G, ELAVL1, ELAVL3, ELSPBP1, EMC10, EML2, EMR1, EMR2, EMR3, EPS8L1, ERCC1, ERCC2, ETFB, EVI5L, EXOSC5, FAM129C, FAM187B, FAM71E2, FAM83E, FBN3, FBXO17, FCAR, FCGBP, FCHO1, FDX1L, FFAR1, FFAR3, FGF21, FIZ1, FKBP8, FOSB, FOXA3, FPR1, FPR3, FTL, FUT2, FUT3, FUT5, FUT6, FXYD3, FXYD5, FXYD7, GALP, GATAD2A, GCDH, GDF15, GIPC1, GIPC3, GIPR, GLTSCR1, GLTSCR2, GNA11, GNA15, GNG8, GP6, GPATCH1, GPR108, GPR42, GPX4, GRAMD1A, GRIN2D, GRIN3B, GRWD1, GSK3A, GTPBP3, GYS1, GZMM, HAPLN4, HAS1, HAUS8, HCN2, HDGFRP2, HIF3A, HKR1, HMHA1, HNRNPL, HNRNPM, HNRNPUL1, HOMER3, HRC, ICAM1, ICAM3, ICAM5, IER2, IFI30, IGFLR1, IL12RB1, ILF3, ILVBL, INSR, IRF3, ISYNA1, IZUMO1, JSRP1, KANK2, KCNC3, KCNK6, KCNN1, KCTD15, KDM4B, KEAP1, KHSRP, KIAA1683, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIRREL2, KLC3, KLF16, KLF2, KLHL26, KLK1, KLK10, KLK12, KLK14, KLK2, KLK3, KLK4, KLK5, KLK7, KLK8, KLK9, KMT2B, KRI1, KXD1, LAIR1, LDLR, LENG8, LENG9, LGALS14, LGI4, LHB, LIG1, LILRA2, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LINGO3, LONP1, LPAR2, LRG1, LRP3, LRRC25, LRRC4B, LRRC8E, LSM14A, LSR, LTBP4, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAP3K10, MARCH2, MARK4, MAST3, MAU2, MBD3L1, MBD3L2, MBD3L3, MCOLN1, MED16, MEF2B, MIER2, MISP, MOB3A, MPND, MRPL54, MUC16, MUM1, MYBPC2, MYH14, MYO9B, MYPOP, MZF1, NCAN, NCR1, NDUFA11, NDUFS7, NFIC, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOTCH3, NOVA2, NPAS1, NPHS1, NR2F6, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, OCEL1, OLFM2, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR4F17, OR7A17, OR7A5, OR7C1, OR7E24, OR7G1, OR7G2, OR7G3, OSCAR, PALM, PALM3, PCP2, PDE4C, PEG3, PEX11G, PGLS, PHLDB3, PIAS4, PIH1D1, PIK3R2, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLIN5, PNMAL1, PNMAL2, PNPLA6, POLR2E, POLRMT, PPAN-P2RY11, PPAP2C, PPFIA3, PPP1R12C, PPP1R15A, PPP6R1, PRAM1, PRKCG, PRKD2, PRR22, PRRG2, PRSS57, PRX, PSG11, PSG2, PSG3, PSG4, PSG5, PSG7, PSMD8, PTBP1, PTGER1, PTGIR, PTPRH, PTPRS, PVR, PVRL2, RAB11B, RAB3A, RAB8A, RASAL3, RASIP1, RAVER1, RDH13, RDH8, REXO1, RFPL4A, RGL3, RHPN2, RINL, RNF126, RPS15, RPS16, RPS9, RRAS, RTBDN, RUVBL2, RYR1, S1PR2, S1PR5, SAE1, SBK2, SBNO2, SBSN, SCAF1, SCN1B, SDHAF1, SELV, SEMA6B, SH2D3A, SH3GL1, SHANK1, SHC2, SHD, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SLC1A5, SLC35E1, SLC44A2, SLC7A9, SLC8A2, SNAPC2, SNRNP70, SPIB, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STXBP2, SULT2A1, SULT2B1, SUPT5H, SYDE1, SYMPK, SYNE4, SYT3, TARM1, TBC1D17, TBXA2R, TCF3, THEG, TIMM44, TJP3, TLE2, TLE6, TM6SF2, TMC4, TMEM143, TMEM161A, TMEM259, TMEM59L, TMEM86B, TMEM91, TMPRSS9, TNFSF14, TNFSF9, TNNI3, TNNT1, TOMM40, TPGS1, TSEN34, TSKS, TSSK6, TTYH1, TUBB4A, TULP2, TYK2, U2AF2, UBA2, UBA52, UBE2S, UBXN6, UNC13A, UPF1, UPK1A, UQCRFS1, USE1, USHBP1, USP29, VN1R1, VN1R2, VSIG10L, VSTM1, WDR18, WDR62, WDR87, WDR88, WTIP, XAB2, XRCC1, YIF1B, ZBTB32, ZBTB45, ZC3H4, ZFP28, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF101, ZNF112, ZNF132, ZNF134, ZNF135, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF211, ZNF221, ZNF223, ZNF224, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF254, ZNF256, ZNF260, ZNF266, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF320, ZNF324B, ZNF333, ZNF347, ZNF350, ZNF358, ZNF382, ZNF404, ZNF415, ZNF417, ZNF419, ZNF426, ZNF432, ZNF439, ZNF440, ZNF441, ZNF443, ZNF444, ZNF446, ZNF468, ZNF470, ZNF471, ZNF492, ZNF507, ZNF529, ZNF530, ZNF534, ZNF536, ZNF543, ZNF544, ZNF548, ZNF549, ZNF550, ZNF554, ZNF555, ZNF559, ZNF565, ZNF566, ZNF567, ZNF568, ZNF57, ZNF573, ZNF577, ZNF584, ZNF607, ZNF610, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF628, ZNF653, ZNF665, ZNF667, ZNF675, ZNF681, ZNF682, ZNF701, ZNF708, ZNF709, ZNF71, ZNF714, ZNF749, ZNF765, ZNF77, ZNF772, ZNF773, ZNF787, ZNF799, ZNF808, ZNF813, ZNF816, ZNF83, ZNF835, ZNF836, ZNF845, ZNF846, ZNF880, ZNF91, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN4, ZSCAN5B,

Genes at Omim

ABCA7, ACP5, ACPT, ACTN4, ADAMTS10, AMH, AP2S1, AP3D1, ARHGEF18, ATP1A3, AURKC, B9D2, BCKDHA, BSG, C19orf12, C3, CACNA1A, CC2D1A, CCDC114, CCDC151, CEBPA, CERS1, CLEC4M, COLGALT1, CPAMD8, CRLF1, CRTC1, CYP2A6, CYP4F22, DLL3, DNAAF3, DNMT1, DOCK6, EEF2, ERCC1, ERCC2, ETFB, FDX1L, FTL, FUT2, FUT3, FUT6, GCDH, GIPC3, GIPR, GNA11, GP6, GPX4, GRIN2D, GTPBP3, GYS1, ICAM1, IL12RB1, INSR, IRF3, KANK2, KCNC3, KIR3DL1, KLK1, KLK4, KMT2B, LDLR, LGI4, LHB, LONP1, LTBP4, MAG, MCOLN1, MYH14, MYO9B, NDUFA11, NDUFS7, NLRP12, NOTCH3, NPHS1, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, PRKCG, PRX, RAB11B, RYR1, S1PR2, SCN1B, SDHAF1, SH3GL1, SIPA1L3, SLC7A9, SPTBN4, STXBP2, SULT2B1, SYNE4, TBXA2R, TCF3, TLE6, TNNI3, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, XRCC1,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACP5 Spondyloenchondrodysplasia with immune dysregulation, 607944 (3)
ACPT Amelogenesis imperfecta, type IJ, 617297 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
AP2S1 Hypocalciuric hypercalcemia, type III, 600740 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
ARHGEF18 Retinitis pigmentosa 78, 617433 (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
AURKC Spermatogenic failure 5, 243060 (3)
B9D2 Joubert syndrome 34, 614175 (3)
?Meckel syndrome 10, 614175 (3)
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)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC151 Ciliary dyskinesia, primary, 30, 616037 (3)
CEBPA Leukemia, acute myeloid, somatic, 601626 (3)
?Leukemia, acute myeloid, 601626 (3)
CERS1 ?Epilepsy, progressive myoclonic, 8, 616230 (3)
CLEC4M SARS infection, protection against (2)
COLGALT1 Brain small vessel disease 3, 618360 (3)
CPAMD8 Anterior segment dysgenesis 8, 617319 (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)
CYP4F22 Ichthyosis, congenital, autosomal recessive 5, 604777 (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)
ETFB Glutaric acidemia IIB, 231680 (3)
FDX1L Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3)
FTL Hyperferritinemia-cataract syndrome, 600886 (3)
L-ferritin deficiency, dominant and recessive, 615604 (3)
Neurodegeneration with brain iron accumulation 3, 606159 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
GCDH Glutaricaciduria, type I, 231670 (3)
GIPC3 Deafness, autosomal recessive 15, 601869 (3)
GIPR [Plasma glucose, 2-hour, QTL 2] (2)
GNA11 Hypocalcemia, autosomal dominant 2, 615361 (3)
Hypocalciuric hypercalcemia, type II, 145981 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRIN2D Epileptic encephalopathy, early infantile, 46, 617162 (3)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
GYS1 Glycogen storage disease 0, muscle, 611556 (3)
ICAM1 {Malaria, cerebral, susceptibility to}, 611162 (3)
IL12RB1 Immunodeficiency 30, 614891 (3)
INSR Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Leprechaunism, 246200 (3)
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Rabson-Mendenhall syndrome, 262190 (3)
IRF3 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3)
KANK2 Nephrotic syndrome, type 16, 617783 (3)
Palmoplantar keratoderma and woolly hair, 616099 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KLK1 [Kallikrein, decreased urinary activity of], 615953 (3)
KLK4 Amelogenesis imperfecta, type IIA1, 204700 (3)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
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)
MCOLN1 Mucolipidosis IV, 252650 (3)
MYH14 Deafness, autosomal dominant 4A, 600652 (3)
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFA11 Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)
NDUFS7 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)
Lateral meningocele syndrome, 130720 (3)
?Myofibromatosis, infantile 2, 615293 (3)
NPHS1 Nephrotic syndrome, type 1, 256300 (3)
NUP62 Striatonigral degeneration, infantile, 271930 (3)
OPA3 Optic atrophy 3 with cataract, 165300 (3)
3-methylglutaconic aciduria, type III, 258501 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIP5K1C Lethal congenital contractural syndrome 3, 611369 (3)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PNPLA6 Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
?Laurence-Moon syndrome, 245800 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
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)
RYR1 Central core disease, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
S1PR2 Deafness, autosomal recessive 68, 610419 (3)
SCN1B Atrial fibrillation, familial, 13, 615377 (3)
Brugada syndrome 5, 612838 (3)
Cardiac conduction defect, nonspecific, 612838 (3)
Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)
Epileptic encephalopathy, early infantile, 52, 617350 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SIPA1L3 ?Cataract 45, 616851 (3)
SLC7A9 Cystinuria, 220100 (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)
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)
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

ACP5, ACTN4, ADAMTS10, ADCK4, AMH, AP2S1, ATP1A3, AURKC, B9D2, BCAM, BCKDHA, BSG, C3, CACNA1A, CALR3, CC2D1A, CCDC114, CCDC151, CEBPA, CERS1, CRLF1, CYP2A6, CYP4F2, CYP4F22, DLL3, DNMT1, DOCK6, ERCC1, ERCC2, ETFB, FTL, FUT3, FUT6, GCDH, GIPC3, GNA11, GP6, GPX4, GTPBP3, GYS1, IL12RB1, INSR, IRF3, KANK2, KCNC3, KLK4, LDLR, LHB, LONP1, LTBP4, MAG, MCOLN1, MYH14, NDUFA11, NDUFS7, NLRP12, NLRP7, NOTCH3, NPHS1, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, PRKCG, PRX, RYR1, S1PR2, SCN1B, SDHAF1, SIPA1L3, SLC7A9, STXBP2, SYNE4, TBXA2R, TCF3, TLE6, TNNI3, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, ZIM2, ZNF565,
ACP5 Spondyloenchondrodysplasia with immune dysregulation
ACTN4 Focal segmental glomerulosclerosis 1
ADAMTS10 Weill-Marchesani syndrome 1
ADCK4 Nephrotic syndrome, type 9
AMH Persistent Mullerian duct syndrome, type I
AP2S1 Hypocalciuric hypercalcemia, familial, type III
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
CEBPA Acute myeloid leukemia, familial
CERS1 Epilepsy, progressive myoclonic 8
CRLF1 Crisponi syndrome
Cold-induced sweating syndrome, type 1
CYP2A6 CYP2A6-related drug metabolism
CYP4F2 Warfarin metabolism
CYP4F22 Ichthyosis, congenital, autosomal recessive 5
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
ETFB Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
FTL L-ferritin deficiency
Neurodegeneration with brain iron accumulation 3
Hyperferritinemia-cataract syndrome
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
GCDH Glutaric aciduria, type I
GIPC3 Deafness, autosomal recessive 15
GNA11 Hypocalcemia 2, autosomal dominant
Hypocalciuric hypercalcemia, autosomal dominant
GP6 Bleeding disorder, platelet-type, 11
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GTPBP3 Combined oxidative phosphorylation deficiency 23
GYS1 Glycogen storage disease, type 0, muscle
IL12RB1 Immunodeficiency 30
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
IRF3 Herpes simplex encephalitis, susceptibility to, 7
KANK2 Palmoplantar keratoderma and woolly hair
KCNC3 Spinocerebellar ataxia 13
KLK4 Amelogenesis imperfecta, type IIA1
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
MCOLN1 Mucolipidosis IV
MYH14 Deafness, autosomal dominant 4
Deafness, autosomal dominant 4B
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
NDUFA11 Mitochondrial complex I deficiency
NDUFS7 Mitochondrial complex I deficiency
Leigh syndrome
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP7 Hydatidiform mole, recurrent, 1
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
NPHS1 Nephrotic syndrome, type 1
NUP62 Striatonigral degeneration, infantile
OPA3 3-methylglutaconic aciduria, type III
Optic atrophy 3, autosomal dominant
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PNPLA6 Boucher-Neuhauser syndrome
Laurence-Moon syndrome
Oliver-McFarlane syndrome
PRKCG Spinocerebellar ataxia 14
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
SCN1B Atrial fibrillation, familial 13
Brugada syndrome 5
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
SLC7A9 Cystinuria
STXBP2 Hemophagocytic lymphohistiocytosis, familial 5
SYNE4 Deafness, autosomal recessive, 76
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF3 Agammaglobulinemia 8, autosomal dominant
TLE6 Preimplantation embryonic lethality
TNNI3 Cardiomyopathy, familial hypertrophic 7
Cardiomyopathy, dilated 1FF
Cardiomyopathy, dilated, 2A
Cardiomyopathy, familial restrictive
TNNT1 Nemaline myopathy 5
TSEN34 Pontocerebellar hypoplasia type 2C
TUBB4A Dystonia 4, torsion, autosomal dominant
Leukodystrophy, hypomyelinating, 6
TYK2 Immunodeficiency 35
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2 Schizophrenia
ZNF565 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 2570
Number of Genes: 680

Export to: CSV

A1BG

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 24_genetics_snv_99 8 slt 19 rs893184
dbSNP Clinvar
58864479 3114.77 T C PASS 1/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.84844 0.84840 0.10849 0.91 0.00 None None None None None None A1BG|0.00221541|90.38%

ABCA7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 24_genetics_snv_99 8 slt 19 rs3764645
dbSNP Clinvar
1042809 973.77 A G PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.39956 0.39960 0.38867 0.48 0.04 None None None None None None ABCA7|0.007770288|82.8%
View 24_genetics_snv_99 8 slt 19 rs3752234
dbSNP Clinvar
1047002 1402.77 A G PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.57887 0.57890 0.46635 None None None None None None ABCA7|0.007770288|82.8%
View 24_genetics_snv_99 8 slt 19 rs3752237
dbSNP Clinvar
1047161 927.77 A G PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.37591 None None None None None None ABCA7|0.007770288|82.8%
View 24_genetics_snv_99 8 slt 19 rs4147914
dbSNP Clinvar
1049269 1611.77 G A PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.24062 0.24060 0.15286 None None None None None None ABCA7|0.007770288|82.8%
View 24_genetics_snv_99 8 slt 19 rs4147915
dbSNP Clinvar
1049305 1694.77 C A PASS 0/1 154 SYNONYMOUS_CODING LOW None 0.19988 0.19990 0.13185 None None None None None None ABCA7|0.007770288|82.8%
View 24_genetics_snv_99 8 slt 19 rs3752240
dbSNP Clinvar
1051214 1849.77 A G PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.28914 0.28910 0.36546 None None None None None None ABCA7|0.007770288|82.8%
View 24_genetics_snv_99 8 slt 19 rs3752246
dbSNP Clinvar
1056492 2046.77 G C PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.82548 0.82550 0.12788 1.00 0.00 None None None None None None ABCA7|0.007770288|82.8%
View 24_genetics_snv_99 8 slt 19 rs4147930
dbSNP Clinvar
1064193 2118.77 G A PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.60643 0.60640 0.29566 None None None None None None ABCA7|0.007770288|82.8%
View 24_genetics_snv_99 8 slt 19 rs4147934
dbSNP Clinvar
1065018 879.77 G T PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.60503 0.60500 0.25026 0.88 0.03 None None None None None None ABCA7|0.007770288|82.8%
View 24_genetics_snv_99 8 slt 19 rs4147935
dbSNP Clinvar
1065044 783.77 C T PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.26141 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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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 24_genetics_snv_99 8 slt 19 rs11086067
dbSNP Clinvar
17412399 1463.77 G A PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.23862 0.23860 0.24494 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%
View 24_genetics_snv_99 8 slt 19 rs11086066
dbSNP Clinvar
17412366 1767.77 G A PASS 0/1 131 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%

ACP5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 24_genetics_snv_99 8 slt 19 rs62638747
dbSNP Clinvar
11687908 1759.77 G A PASS 0/1 163 SYNONYMOUS_CODING LOW None 0.06470 0.06470 0.09157 None None None None None None ZNF627|0.001347308|93.61%,ACP5|0.038435698|66.32%
View 24_genetics_snv_99 8 slt 19 rs2305799
dbSNP Clinvar
11687351 1184.77 C T PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.08127 0.08127 0.09196 0.10 0.32 None None None None None None ZNF627|0.001347308|93.61%,ACP5|0.038435698|66.32%
View 24_genetics_snv_99 8 slt 19 rs2229531
dbSNP Clinvar
11687195 1774.77 C T PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.07129 0.07129 0.08214 0.01 0.68 None None None None None None ZNF627|0.001347308|93.61%,ACP5|0.038435698|66.32%

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 24_genetics_snv_99 8 slt 19 rs55716643
dbSNP Clinvar
51297825 2494.77 G A PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.32987 0.32990 0.23512 0.53 0.00 None None None None None None ACPT|0.016239372|76.31%
View 24_genetics_snv_99 8 slt 19 rs55735528
dbSNP Clinvar
51297826 2494.77 C A PASS 0/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.32987 0.32990 0.23497 1.00 0.00 None None None None None None ACPT|0.016239372|76.31%

ACSBG2

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 24_genetics_snv_99 8 slt 19 rs33937754
dbSNP Clinvar
6156510 807.77 A G PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.04952 0.04952 0.11026 0.75 0.03 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%
View 24_genetics_snv_99 8 slt 19 rs4807840
dbSNP Clinvar
6156483 1088.77 T C PASS 0/1 80 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%
View 24_genetics_snv_99 8 slt 19 rs17856650
dbSNP Clinvar
6187800 3009.77 G A PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.09405 0.09405 0.08458 1.00 0.00 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%
View 24_genetics_snv_99 8 slt 19 rs35521854
dbSNP Clinvar
6190599 1004.77 A G PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.03474 0.03474 0.03883 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%
View 24_genetics_snv_99 8 slt 19 rs17856651
dbSNP Clinvar
6187805 2969.77 G C PASS 0/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.09405 0.09405 0.08465 1.00 0.00 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%
View 24_genetics_snv_99 8 slt 19 rs16993453
dbSNP Clinvar
6187657 2012.77 C T PASS 0/1 134 SYNONYMOUS_CODING LOW None 0.09485 0.09485 0.08465 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%
View 24_genetics_snv_99 8 slt 19 rs17851957
dbSNP Clinvar
6183233 929.77 G A PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.09585 0.09585 0.08488 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 24_genetics_snv_99 8 slt 19 rs10410943
dbSNP Clinvar
8808900 2292.77 A G PASS 0/1 190 NON_SYNONYMOUS_CODING MODERATE None 0.79173 0.79170 0.27926 1.00 0.00 None None None None None None ACTL9|0.004666462|86.26%
View 24_genetics_snv_99 8 slt 19 rs2340550
dbSNP Clinvar
8808942 2128.77 A G PASS 0/1 173 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%

ACTN4

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 24_genetics_snv_99 8 slt 19 rs1136956
dbSNP Clinvar
39219780 1608.77 T C PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.18750 0.18750 0.21375 None None None None None None ACTN4|0.387377198|21.58%
View 24_genetics_snv_99 8 slt 19 rs3745859
dbSNP Clinvar
39196745 784.77 C T PASS 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33926 0.33930 0.39236 None None None None None None ACTN4|0.387377198|21.58%
View 24_genetics_snv_99 8 slt 19 rs11553600
dbSNP Clinvar
39196736 1332.77 G A PASS 0/1 85 SYNONYMOUS_CODING LOW None 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 24_genetics_snv_99 8 slt 19 rs7255721
dbSNP Clinvar
8669931 1374.77 G C PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.89397 0.89400 0.21830 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%
View 24_genetics_snv_99 8 slt 19 rs7252299
dbSNP Clinvar
8645786 5375.77 A C PASS 1/1 165 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%

ADAMTSL5

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 24_genetics_snv_99 8 slt 19 rs265291
dbSNP Clinvar
1510661 3266.77 A G PASS 1/1 107 SYNONYMOUS_CODING LOW None 0.93570 0.93570 0.06900 None None None None None None ADAMTSL5|0.011039552|80.05%

ADCK4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 24_genetics_snv_99 8 slt 19 rs56056214
dbSNP Clinvar
41205996 638.77 G A PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.01015 None None None None None None ADCK4|0.043749388|64.59%
View 24_genetics_snv_99 8 slt 19 rs11538385
dbSNP Clinvar
41209477 1288.77 C T PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.22943 0.22940 0.23197 None None None None None None ADCK4|0.043749388|64.59%
View 24_genetics_snv_99 8 slt 19 rs3865452
dbSNP Clinvar
41211056 1296.77 T C PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.47744 0.47740 0.45248 0.53 0.00 None None None None None None ADCK4|0.043749388|64.59%

AKAP8L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 24_genetics_snv_99 8 slt 19 rs2058322
dbSNP Clinvar
15508362 4291.77 G C PASS 1/1 138 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.71 0.00 None None None None None None AKAP8L|0.140468826|44.33%

ALDH16A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 24_genetics_snv_99 8 slt 19 rs7259560
dbSNP Clinvar
49965173 813.77 A T PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.30092 0.30090 0.32176 None None None None None None ALDH16A1|0.021103617|73.62%
View 24_genetics_snv_99 8 slt 19 rs10853810
dbSNP Clinvar
49969085 1246.77 C T PASS 0/1 144 SYNONYMOUS_CODING LOW None 0.20927 0.20930 0.33884 None None None None None None ALDH16A1|0.021103617|73.62%
View 24_genetics_snv_99 8 slt 19 rs145883954
dbSNP Clinvar
49962986 1019.77 C G PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.00439 0.00439 0.01238 0.16 0.13 None None None None None None ALDH16A1|0.021103617|73.62%
View 24_genetics_snv_99 8 slt 19 rs1320303
dbSNP Clinvar
49964977 2379.77 C G PASS 1/1 83 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 24_genetics_snv_99 8 slt 19 rs11558188
dbSNP Clinvar
49967981 689.77 T G PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.20986 0.20990 0.33692 None None None None None None ALDH16A1|0.021103617|73.62%
View 24_genetics_snv_99 8 slt 19 rs2293009
dbSNP Clinvar
49967680 1112.77 G A PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.31150 0.31150 0.32921 None None None None None None ALDH16A1|0.021103617|73.62%

AMH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 24_genetics_snv_99 8 slt 19 rs10417628
dbSNP Clinvar
2251817 2250.77 T C PASS 1/1 74 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 24_genetics_snv_99 8 slt 19 rs7252789
dbSNP Clinvar
2251512 325.77 T A PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.91893 0.91890 None None None None None None AMH|0.062219269|59.26%
View 24_genetics_snv_99 8 slt 19 rs10407022
dbSNP Clinvar
2249477 3812.77 G T PASS 1/1 121 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%

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 24_genetics_snv_99 8 slt 19 rs751599
dbSNP Clinvar
17396549 3247.77 T C PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19937 None None None None None None ANKLE1|0.002494569|89.7%
View 24_genetics_snv_99 8 slt 19 rs11086065
dbSNP Clinvar
17395003 2565.77 A G PASS 1/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.63518 0.63520 0.19914 1.00 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View 24_genetics_snv_99 8 slt 19 rs10425939
dbSNP Clinvar
17397244 1995.77 C T PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.09864 0.09864 0.17080 None None None None None None ANKLE1|0.002494569|89.7%
View 24_genetics_snv_99 8 slt 19 rs1864113
dbSNP Clinvar
17393504 570.77 G C PASS 1/1 17 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 24_genetics_snv_99 8 slt 19 rs1864116
dbSNP Clinvar
17393015 2238.77 C T PASS 1/1 73 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 24_genetics_snv_99 8 slt 19 rs8100241
dbSNP Clinvar
17392894 921.77 G A PASS 0/1 114 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 24_genetics_snv_99 8 slt 19 rs8108174
dbSNP Clinvar
17393530 392.77 T A PASS 0/1 22 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 24_genetics_snv_99 8 slt 19 rs11882562
dbSNP Clinvar
17395055 2644.77 C G PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.63538 0.63540 0.19922 None None None None None None ANKLE1|0.002494569|89.7%
View 24_genetics_snv_99 8 slt 19 rs2363956
dbSNP Clinvar
17394124 1117.77 T G PASS 0/1 121 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 24_genetics_snv_99 8 slt 19 rs891017
dbSNP Clinvar
17394504 4807.77 A C PASS 1/1 152 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%

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 24_genetics_snv_99 8 slt 19 rs353693
dbSNP Clinvar
4217207 5296.77 T G PASS 1/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.97504 0.97500 0.05681 1.00 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View 24_genetics_snv_99 8 slt 19 rs2052191
dbSNP Clinvar
4200156 992.77 G A PASS 0/1 78 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%

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 24_genetics_snv_99 8 slt 19 rs2302970
dbSNP Clinvar
33098632 1915.77 G C PASS 0/1 140 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 24_genetics_snv_99 8 slt 19 rs7247420
dbSNP Clinvar
33096786 1130.77 G A PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.23463 0.23460 0.18653 None None None None None None ANKRD27|0.115031878|48.32%
View 24_genetics_snv_99 8 slt 19 rs7248273
dbSNP Clinvar
33096816 1189.77 C T PASS 0/1 121 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.18151 0.18150 0.15424 None None None None None None ANKRD27|0.115031878|48.32%
View 24_genetics_snv_99 8 slt 19 rs144590411
dbSNP Clinvar
33134229 1266.77 C T PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.00140 0.00140 0.00115 None None None None None None ANKRD27|0.115031878|48.32%
View 24_genetics_snv_99 8 slt 19 rs6510271
dbSNP Clinvar
33117666 3400.77 T C PASS 1/1 117 SYNONYMOUS_CODING LOW None 0.65196 0.65200 0.34084 None None None None None None ANKRD27|0.115031878|48.32%
View 24_genetics_snv_99 8 slt 19 rs2287669
dbSNP Clinvar
33110204 972.77 T C PASS 0/1 99 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 24_genetics_snv_99 8 slt 19 rs405858
dbSNP Clinvar
33106621 4614.77 C T PASS 1/1 153 SYNONYMOUS_CODING LOW None 0.48083 0.48080 0.38974 None None None None None None ANKRD27|0.115031878|48.32%

ANO8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 24_genetics_snv_99 8 slt 19 rs8102944
dbSNP Clinvar
17438642 3612.77 A G PASS 1/1 115 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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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 24_genetics_snv_99 8 slt 19 rs3752797
dbSNP Clinvar
16339715 4218.77 C T PASS 1/1 135 SYNONYMOUS_CODING LOW None 0.45208 0.45210 0.44187 None None None None None None AP1M1|0.058029862|60.39%

AP1M2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 24_genetics_snv_99 8 slt 19 rs1045361
dbSNP Clinvar
10692000 1226.77 T C PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.37260 0.37260 0.20816 None None None None None None AP1M2|0.078128475|55.65%

AP2S1

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 24_genetics_snv_99 8 slt 19 rs312185
dbSNP Clinvar
47342867 2743.77 A C PASS 1/1 85 None None None 0.59066 0.59070 0.48962 0.72 0.00 None None None None None None AP2S1|0.194093268|37.41%

AP3D1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 24_genetics_snv_99 8 slt 19 rs55698722
dbSNP Clinvar
2114175 1511.77 T C PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.07748 0.07748 0.13196 None None None None None None AP3D1|0.055098943|61.17%
View 24_genetics_snv_99 8 slt 19 rs25673
dbSNP Clinvar
2109157 3464.77 T C PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.07788 0.07788 0.13613 0.90 0.00 None None None None None None AP3D1|0.055098943|61.17%
View 24_genetics_snv_99 8 slt 19 rs34569645
dbSNP Clinvar
2118692 4675.77 C T PASS 1/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.07588 0.07588 0.13243 0.19 0.19 None None None None None None AP3D1|0.055098943|61.17%
View 24_genetics_snv_99 8 slt 19 rs2074960
dbSNP Clinvar
2116649 4290.77 A G PASS 1/1 137 SYNONYMOUS_CODING LOW None 0.16334 0.16330 0.17480 None None None None None None AP3D1|0.055098943|61.17%
View 24_genetics_snv_99 8 slt 19 rs20567
dbSNP Clinvar
2110746 1943.77 G A PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.32508 0.32510 0.29864 None None None None None None AP3D1|0.055098943|61.17%

APBA3

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 24_genetics_snv_99 8 slt 19 rs3746120
dbSNP Clinvar
3753769 1033.77 C T PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.34006 0.34010 0.32226 None None None None None None APBA3|0.009354531|81.41%
View 24_genetics_snv_99 8 slt 19 rs8102086
dbSNP Clinvar
3752874 3763.77 A G PASS 1/1 122 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 24_genetics_snv_99 8 slt 19 rs34868972
dbSNP Clinvar
3753874 1491.77 G A PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.09185 0.09185 0.11926 None None None None None None APBA3|0.009354531|81.41%

APOC4

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 24_genetics_snv_99 8 slt 19 rs1132899
dbSNP Clinvar
45448036 1852.77 T C PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.66434 0.66430 0.41833 0.46 0.00 None None None None None None APOC4|0.001267277|94.07%,APOC4-APOC2|0.001598854|92.35%
View 24_genetics_snv_99 8 slt 19 rs5167
dbSNP Clinvar
45448465 1340.77 T G PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.43930 0.43930 0.39236 1.00 0.00 None None None None None None APOC4|0.001267277|94.07%,APOC4-APOC2|0.001598854|92.35%

ARHGAP33

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 24_genetics_snv_99 8 slt 19 rs231228
dbSNP Clinvar
36268771 789.77 C T PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.28954 0.28950 0.25181 None None None None None None ARHGAP33|0.074124913|56.5%
View 24_genetics_snv_99 8 slt 19 rs231235
dbSNP Clinvar
36278470 2959.77 C G PASS 1/1 92 SYNONYMOUS_CODING LOW None 0.53474 0.53470 0.44447 None None None None None None ARHGAP33|0.074124913|56.5%
View 24_genetics_snv_99 8 slt 19 rs35297478
dbSNP Clinvar
36273308 1105.77 G A PASS 0/1 103 SYNONYMOUS_CODING LOW None 0.11961 0.11960 0.08881 None None None None None None ARHGAP33|0.074124913|56.5%

ARHGEF18

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 24_genetics_snv_99 8 slt 19 rs10405143
dbSNP Clinvar
7533767 1077.77 T G PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.79054 0.79050 0.22986 None None None None None None ARHGEF18|0.021386843|73.49%
View 24_genetics_snv_99 8 slt 19 rs2287914
dbSNP Clinvar
7524846 1383.77 C T PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.18730 0.18730 0.20567 None None None None None None ARHGEF18|0.021386843|73.49%
View 24_genetics_snv_99 8 slt 19 rs9329368
dbSNP Clinvar
7533850 1555.77 A G PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.83427 0.83430 0.18783 1.00 0.00 None None None None None None ARHGEF18|0.021386843|73.49%
View 24_genetics_snv_99 8 slt 19 rs2287915
dbSNP Clinvar
7524855 1434.77 C T PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.22704 0.22700 0.21197 None None None None None None ARHGEF18|0.021386843|73.49%
View 24_genetics_snv_99 8 slt 19 rs2287918
dbSNP Clinvar
7528734 1647.77 A G PASS 0/1 134 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 24_genetics_snv_99 8 slt 19 rs2303142
dbSNP Clinvar
7532252 1017.77 G C PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.22824 0.22820 0.19109 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 24_genetics_snv_99 8 slt 19 rs1051504
dbSNP Clinvar
971933 2627.77 A G PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.59485 0.59480 0.27105 None None None None None None ARID3A|0.039022569|66.1%
View 24_genetics_snv_99 8 slt 19 rs12608658
dbSNP Clinvar
965043 2876.77 T C PASS 1/1 92 SYNONYMOUS_CODING LOW None 0.93890 0.93890 0.05167 None None None None None None ARID3A|0.039022569|66.1%

ARRDC2

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 24_genetics_snv_99 8 slt 19 rs7259041
dbSNP Clinvar
18123738 1068.77 T C PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.31110 0.31110 0.30571 1.00 0.00 None None None None None None ARRDC2|0.008925773|81.73%

ARRDC5

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 24_genetics_snv_99 8 slt 19 rs2779168
dbSNP Clinvar
4902754 1674.77 G A PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.12939 0.12940 0.26478 None None None None None None ARRDC5|0.003994483|87.03%

ATF5

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 24_genetics_snv_99 8 slt 19 rs283526
dbSNP Clinvar
50435862 1388.77 C T PASS 0/1 85 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 24_genetics_snv_99 8 slt 19 rs283525
dbSNP Clinvar
50435747 761.77 T C PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.66813 0.66810 0.38590 None None None None None None ATF5|0.036517544|66.96%

ATP13A1

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 24_genetics_snv_99 8 slt 19 rs61752462
dbSNP Clinvar
19766726 1001.77 G A PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.01897 0.01897 0.02656 None None None None None None ATP13A1|0.111550115|48.93%

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 24_genetics_snv_99 8 slt 19 rs919390
dbSNP Clinvar
42471050 3549.77 G C PASS 1/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.71945 0.71940 0.28832 0.00 None None None None None None ATP1A3|0.149065263|43.12%
View 24_genetics_snv_99 8 slt 19 rs2217342
dbSNP Clinvar
42489516 2742.77 A C PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.90156 0.90160 0.07028 None None None None None None ATP1A3|0.149065263|43.12%

ATP8B3

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 24_genetics_snv_99 8 slt 19 rs56335545
dbSNP Clinvar
1789721 1432.77 T C PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.10503 0.10500 0.09558 None None None None None None ATP8B3|0.003576519|87.64%
View 24_genetics_snv_99 8 slt 19 rs45574836
dbSNP Clinvar
1806667 1113.77 C T PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.06190 0.06190 0.03415 0.26 0.02 None None None None None None ATP8B3|0.003576519|87.64%
View 24_genetics_snv_99 8 slt 19 rs7250872
dbSNP Clinvar
1811603 2495.77 C T PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.39617 0.39620 0.35086 0.21 0.00 None None None None None None ATP8B3|0.003576519|87.64%