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INDIVIDUALS:

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FREQUENCIES

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CADD

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MCAP

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Genes:
A1BG, ABCA7, ABHD17A, AC006486.1, AC009892.10, AC010642.1, AC011500.1, AC012313.1, AC018755.1, AC020907.1, AC020922.1, AC024592.12, AC025278.1, AC074212.3, ACER1, ACP5, ACPT, ACSBG2, ACTL9, ADAMTS10, ADAMTSL5, ADAT3, ADCK4, ADM5, AES, AKAP8L, ALDH16A1, AMH, ANGPTL4, ANKLE1, ANKRD24, ANKRD27, AP1M1, AP2S1, AP3D1, APBA3, APC2, APOC4, APOE, ARHGAP33, ARHGEF18, ARID3A, ARMC6, ARRDC2, ARRDC5, ASPDH, ATF5, ATG4D, ATP1A3, ATP4A, ATP5SL, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BCAM, BCAT2, BCKDHA, BLOC1S3, BRSK1, BSG, BSPH1, BTBD2, C19orf24, C19orf26, C19orf40, C19orf44, C19orf45, C19orf48, C19orf54, C19orf55, C19orf57, C19orf68, C19orf73, C19orf80, C19orf81, C2CD4C, C3, C5AR1, CA11, CABP5, CACNA1A, CACNG6, CACTIN, CALR, CALR3, CAPNS1, CARD8, CATSPERD, CATSPERG, CC2D1A, CCDC105, CCDC106, CCDC114, CCDC124, CCDC151, CCDC155, CCDC159, CCDC61, CCDC8, CCDC9, CCDC94, CCER2, CCL25, CD177, CD33, CD37, CD3EAP, CDC34, CDKN2D, CEACAM1, CEACAM18, CEACAM21, CEACAM5, CEACAM6, CEACAM8, CELF5, CEP89, CERS1, CERS4, CHAF1A, CHERP, CIB3, CIC, CIRBP, CKM, CLASRP, CLC, CLEC4G, CLEC4M, CLPTM1, CNN2, CNOT3, COL5A3, COLGALT1, COMP, COPE, CPAMD8, CPT1C, CTB-54O9.9, CTD-3193O13.9, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DAND5, DAPK3, DEDD2, DKKL1, DLL3, DMKN, DMRTC2, DMWD, DNAAF3, DNAJB1, DNASE2, DNMT1, DOCK6, DOT1L, DPY19L3, DUS3L, EBI3, ECH1, EEF2, EHD2, EID2, EID2B, EIF3G, ELANE, ELAVL3, ELSPBP1, EMC10, EML2, EMR1, EMR2, EMR3, EPS8L1, ERCC1, ERCC2, ERF, ERVV-2, ETFB, EVI5L, EXOSC5, FAM129C, FAM187B, FAM71E2, FAM83E, FBN3, FBXO17, FCAR, FCER2, FCGBP, FCHO1, FDX1L, FGF21, FIZ1, FKRP, FPR1, FPR3, FSD1, FSTL3, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD3, FXYD5, GADD45B, GALP, GDF1, GDF15, GFY, GIPC1, GIPR, GLTSCR1, GLTSCR2, GMIP, GNA11, GNA15, GP6, GPATCH1, GPI, GPR108, GPR32, GRAMD1A, GRIN2D, GRIN3B, GRWD1, GSK3A, GZMM, HAS1, HAUS8, HCN2, HDGFRP2, HIF3A, HKR1, HMHA1, HNRNPL, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HPN, HRC, HSD17B14, HSH2D, ICAM3, ICAM5, IFNL1, IFNL2, IGFL4, IL12RB1, IL4I1, ILF3, ILVBL, INSL3, INSR, IRGQ, ISOC2, IZUMO1, IZUMO2, JSRP1, KANK2, KANK3, KCNA7, KCNC3, KCTD15, KDM4B, KEAP1, KHSRP, KIAA0355, KIAA1683, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, KIRREL2, KISS1R, KLC3, KLF1, KLF16, KLK1, KLK10, KLK14, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK9, KMT2B, KRI1, LAIR1, LDLR, LENG8, LENG9, LGALS14, LGALS16, LGI4, LHB, LIG1, LILRA1, LILRA2, LILRA3, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LMNB2, LONP1, LPAR2, LRP3, LRRC25, LRRC4B, LRRC8E, LSM4, LSR, LTBP4, LYPD4, LYPD5, MADCAM1, MAMSTR, MAN2B1, MAP1S, MAP2K7, MAP3K10, MAP4K1, MARCH2, MARK4, MAST1, MAST3, MAU2, MBD3L1, MBOAT7, MCOLN1, MED16, MED26, MEGF8, MIDN, MISP, MLLT1, MOB3A, MPND, MRPL54, MUC16, MUM1, MVB12A, MYBPC2, MYH14, MYO9B, MYPOP, MZF1, NANOS3, NAPSA, NCCRP1, NCR1, NDUFA3, NDUFB7, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOVA2, NPAS1, NPHS1, NR1H2, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, OCEL1, OLFM2, OPA3, OR10H1, OR10H2, OR10H3, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A17, OR7C1, OR7C2, OR7G2, OSCAR, OVOL3, PALM, PAPL, PDE4A, PDE4C, PEG3, PGLS, PGLYRP2, PHLDB3, PIAS4, PIH1D1, PIK3R2, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLIN5, PLK5, POLR2E, POLRMT, PPAN-P2RY11, PPAP2C, PPP1R12C, PPP1R15A, PPP5D1, PPP6R1, PRAM1, PRKCG, PRKD2, PRR22, PRR24, PRSS57, PRTN3, PRX, PSG11, PSG2, PSG3, PSG5, PSG6, PSG7, PSG8, PSG9, PTGER1, PTGIR, PTOV1, PTPRH, PTPRS, PVR, PVRL2, R3HDM4, RAB3A, RAB8A, RAVER1, RDH13, RDH8, REXO1, RFPL4A, RFPL4AL1, RFX1, RGL3, RGS9BP, RHPN2, RLN3, RNF126, RPL13A, RPS16, RRAS, RTBDN, RYR1, S1PR2, S1PR5, SAE1, SAFB, SARS2, SBK2, SBK3, SCAF1, SCN1B, SDHAF1, SEMA6B, SGTA, SH3GL1, SHANK1, SHC2, SHD, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC1A6, SLC25A23, SLC27A1, SLC27A5, SLC35E1, SLC44A2, SLC7A9, SLC8A2, SMIM17, SNAPC2, SPHK2, SPIB, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STRN4, STXBP2, SUGP2, SULT2A1, SULT2B1, SUPT5H, SUV420H2, SYNE4, SYT3, TARM1, TBC1D17, TBXA2R, TCF3, TDRD12, TGFB1, THAP8, THEG, TICAM1, TIMM44, TIMM50, TJP3, TLE2, TMC4, TMEM143, TMEM150B, TMEM161A, TMEM190, TMEM221, TMEM238, TMEM259, TMEM59L, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFSF14, TNNT1, TPGS1, TPRX1, TRAPPC5, TRIM28, TSEN34, TUBB4A, TYK2, U2AF2, UBA2, UBE2M, UBE2S, UBXN6, UNC13A, UQCRFS1, URI1, USE1, USF2, USHBP1, USP29, VAV1, VMAC, VN1R1, VN1R2, VN1R4, VSIG10L, VSTM1, VSTM2B, WDR18, WDR62, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, ZBTB45, ZC3H4, ZFP28, ZFP36, ZFP82, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF112, ZNF132, ZNF135, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF180, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF227, ZNF229, ZNF233, ZNF235, ZNF253, ZNF256, ZNF257, ZNF260, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF302, ZNF304, ZNF320, ZNF321P, ZNF324, ZNF331, ZNF333, ZNF345, ZNF350, ZNF382, ZNF404, ZNF414, ZNF418, ZNF419, ZNF429, ZNF432, ZNF44, ZNF440, ZNF441, ZNF443, ZNF446, ZNF45, ZNF468, ZNF470, ZNF471, ZNF480, ZNF490, ZNF493, ZNF497, ZNF507, ZNF524, ZNF525, ZNF526, ZNF527, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF543, ZNF544, ZNF548, ZNF549, ZNF550, ZNF554, ZNF555, ZNF559, ZNF561, ZNF564, ZNF565, ZNF566, ZNF567, ZNF568, ZNF57, ZNF571, ZNF573, ZNF577, ZNF578, ZNF579, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF600, ZNF607, ZNF610, ZNF611, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF628, ZNF66, ZNF665, ZNF667, ZNF671, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF700, ZNF701, ZNF708, ZNF709, ZNF714, ZNF724P, ZNF730, ZNF738, ZNF749, ZNF765, ZNF77, ZNF772, ZNF773, ZNF781, ZNF784, ZNF787, ZNF788, ZNF790, ZNF793, ZNF805, ZNF812, ZNF813, ZNF814, ZNF816, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF845, ZNF850, ZNF90, ZNF91, ZNF98, ZNRF4, ZSCAN1, ZSCAN22, ZSCAN5B, ZSCAN5C, ZSCAN5D, ZSWIM4, hsa-mir-1199, hsa-mir-150,

Genes at Omim

ABCA7, ACP5, ADAMTS10, ADAT3, ADCK4, AMH, ANGPTL4, AP2S1, AP3D1, APOE, ATP1A3, AURKC, B9D2, BCAT2, BCKDHA, BLOC1S3, BSG, C3, CACNA1A, CALR, CALR3, CC2D1A, CCDC114, CCDC151, CCDC8, CERS1, CLEC4M, COMP, CPT1C, CYP2A6, CYP2B6, DLL3, DNAAF3, DNMT1, DOCK6, EEF2, ELANE, ERCC1, ERCC2, ERF, ETFB, FKRP, FUT2, FUT3, FUT6, FUZ, GDF1, GIPR, GNA11, GP6, GPI, IL12RB1, INSL3, INSR, KANK2, KCNC3, KIR3DL1, KISS1R, KLF1, KLK1, KLK4, LDLR, LHB, LIG1, LMNB2, LONP1, LTBP4, MAN2B1, MCOLN1, MEGF8, MYH14, MYO9B, NLRP12, NPHS1, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PRKCG, PRX, RGS9BP, RYR1, S1PR2, SARS2, SCN1B, SDHAF1, SH3GL1, SIPA1L3, SIX5, SLC7A9, STXBP2, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TNNT1, TSEN34, TUBB4A, TYK2, WDR62,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACP5 Spondyloenchondrodysplasia with immune dysregulation, 607944 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
ADAT3 Mental retardation, autosomal recessive 36, 615286 (3)
ADCK4 Nephrotic syndrome, type 9, 615573 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
AP2S1 Hypocalciuric hypercalcemia, familial, type III, 600740 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
APOE Alzheimer disease-2, 104310 (3)
Hyperlipoproteinemia, type III (3)
Lipoprotein glomerulopathy, 611771 (3)
Sea-blue histiocyte disease, 269600 (3)
{?Macular degeneration, age-related}, 603075 (3)
{Myocardial infarction susceptibility} (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
AURKC Spermatogenic failure 5, 243060 (3)
B9D2 Meckel syndrome 10, 614175 (3)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
BLOC1S3 Hermansky-Pudlak syndrome 8, 614077 (3)
BSG [Blood group, OK], 111380 (3)
C3 C3 deficiency, 613779 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (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)
CALR3 ?Cardiomyopathy, hypertrophic, 19, 613875 (3)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC151 Ciliary dyskinesia, primary, 30, 616037 (3)
CCDC8 3-M syndrome 3, 614205 (3)
CERS1 ?Epilepsy, progressive myoclonic, 8, 616230 (3)
CLEC4M SARS infection, protection against (2)
COMP Epiphyseal dysplasia, multiple, 1, 132400 (3)
Pseudoachondroplasia, 177170 (3)
CPT1C ?Spastic paraplegia 73, autosomal dominant, 616282 (3)
CYP2A6 Coumarin resistance, 122700 (3)
{Lung cancer, resistance to}, 211980 (3)
{Nicotine addiction, protection from}, 188890 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DOCK6 Adams-Oliver syndrome 2, 614219 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
ELANE Neutropenia, cyclic, 162800 (3)
Neutropenia, severe congenital 1, autosomal dominant, 202700 (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 Craniosynostosis 4, 600775 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3)
FUT2 [Bombay phenotype] (3)
{Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
FUZ Neural tube defects, 182940 (3)
GDF1 Double-outlet right ventricle, 217095 (3)
Right atrial isomerism, 208530 (3)
Tetralogy of Fallot, 187500 (3)
Transposition of great arteries, dextro-looped 3, 613854 (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)
GPI Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3)
IL12RB1 Immunodeficiency 30, 614891 (3)
INSL3 Cryptorchidism, 219050 (3)
INSR Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Leprechaunism, 246200 (3)
Rabson-Mendenhall syndrome, 262190 (3)
KANK2 Palmoplantar keratoderma and woolly hair, 616099 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KISS1R ?Precocious puberty, central, 1, 176400 (3)
Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (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)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LHB Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)
LIG1 DNA ligase I deficiency (3)
LMNB2 ?Epilepsy, progressive myoclonic, 9, 616540 (3)
{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
LONP1 CODAS syndrome, 600373 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAN2B1 Mannosidosis, alpha-, types I and II, 248500 (3)
MCOLN1 Mucolipidosis IV, 252650 (3)
MEGF8 Carpenter syndrome 2, 614976 (3)
MYH14 ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
Deafness, autosomal dominant 4A, 600652 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NPHS1 Nephrotic syndrome, type 1, 256300 (3)
NUP62 Striatonigral degeneration, infantile, 271930 (3)
OPA3 3-methylglutaconic aciduria, type III, 258501 (3)
Optic atrophy 3 with cataract, 165300 (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)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
RGS9BP Bradyopsia, 608415 (3)
RYR1 Central core disease, 117000 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
S1PR2 Deafness, autosomal recessive 68, 610419 (3)
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (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)
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)
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (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)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TICAM1 {Herpes simplex encephalitic, susceptibility to, 6}, 614850 (3)
TNNT1 Nemaline myopathy 5, Amish type, 605355 (3)
TSEN34 ?Pontocerebellar hypoplasia type 2C, 612390 (3)
TUBB4A Dystonia 4, torsion, autosomal dominant, 128101 (3)
Leukodystrophy, hypomyelinating, 6, 612438 (3)
TYK2 Immunodeficiency 35, 611521 (3)
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)

Genes at Clinical Genomics Database

ACP5, ADAMTS10, ADCK4, AMH, AP2S1, APOE, ATP1A3, AURKC, B9D2, BCAM, BCKDHA, BLOC1S3, BSG, C3, CACNA1A, CALR3, CC2D1A, CCDC114, CCDC151, CCDC8, CERS1, COMP, CPT1C, CYP2A6, CYP2B6, CYP4F2, DLL3, DNMT1, DOCK6, ELANE, ERCC1, ERCC2, ERF, ETFB, FKRP, FUT3, FUT6, FUZ, GDF1, GNA11, GP6, GPI, IL12RB1, INSL3, INSR, KANK2, KCNC3, KISS1R, KLF1, KLK4, LDLR, LHB, LMNB2, LONP1, LTBP4, MAN2B1, MCOLN1, MEGF8, MYH14, NLRP12, NLRP7, NPHS1, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PRKCG, PRX, RGS9BP, RYR1, S1PR2, SARS2, SCN1B, SDHAF1, SIPA1L3, SIX5, SLC7A9, STXBP2, SYNE4, TBXA2R, TCF3, TGFB1, TICAM1, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, ZIM2, ZNF480, ZNF565,
ACP5 Spondyloenchondrodysplasia with immune dysregulation
ADAMTS10 Weill-Marchesani syndrome 1
ADCK4 Nephrotic syndrome, type 9
AMH Persistent Mullerian duct syndrome, type I
AP2S1 Hypocalciuric hypercalcemia, familial, type III
APOE Sea-blue histiocyte disease
Lipoprotein glomerulopathy
Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III)
ATP1A3 Alternating hemiplegia of childhood 2
AURKC Spermatogenic failure 5
B9D2 Meckel syndrome 10
BCAM Lutheran, null
Blood group, Auberger system
Blood group, Lutheran system
BCKDHA Maple syrup urine disease, type Ia
BLOC1S3 Hermansky-Pudlak syndrome 8
BSG Blood group, OK
C3 Hemolytic uremic syndrome, atypical, susceptibility to, 5
Complement component 3 deficiency, autosomal recessive
CACNA1A Migraine, familial hemiplegic 1
Episodic ataxia, type 2
CALR3 Cardiomyopathy, familial hypertrophic, 19
CC2D1A Mental retardation, autosomal recessive 3
CCDC114 Ciliary dyskinesia, primary, 20
CCDC151 Ciliary dyskinesia, primary,30
CCDC8 Three M syndrome 3
CERS1 Epilepsy, progressive myoclonic 8
COMP Multiple ephiphyseal dysplasia
Pseudoachondroplasia
CPT1C Spastic paraplegia 73, autosomal dominant
CYP2A6 CYP2A6-related drug metabolism
CYP2B6 Efavirenz, poor metabolism of
CYP4F2 Warfarin metabolism
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Neuropathy, hereditary sensory, type IE
DOCK6 Adams-Oliver syndrome 2
ELANE Neutropenia, cyclic
Neutropenia, severe congenital 1, autosomal dominant
ERCC1 Cerebrooculofacioskeletal syndrome 4
ERCC2 Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
ERF Craniosynostosis 4
ETFB Glutaric aciduria II
Multiple acyl-CoA dehydrogenase deficiency
FKRP Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
FUZ Neural tube defects, susceptibility to
GDF1 Double-outlet right ventricle
Transposition of the great arteries, dextro-looped 3
GNA11 Hypocalciuric hypercalcemia, autosomal dominant
Hypocalcemia 2, autosomal dominant
GP6 Bleeding disorder, platelet-type, 11
GPI Hemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiency
IL12RB1 Immunodeficiency 30
INSL3 Cryptorchidism
INSR Donohoe syndrome
Rabson-Mendenhall syndrome
Hyperinsulinemic hypoglycemia, familial, 5
KANK2 Palmoplantar keratoderma and woolly hair
KCNC3 Spinocerebellar ataxia 13
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
KLF1 Blood group, Lutheran inhibitor
Anemia, dyserythropoietic congenital, type IV
KLK4 Amelogenesis imperfecta, type IIA1
LDLR Hypercholesterolemia, familial
LHB Hypogonadotropic hypogonadism 23 with or without anosmia
LMNB2 Epilepsy, progressive myoclonic, 9
Liopdystrophy, partial, acquired
LONP1 Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAN2B1 Mannosidosis, alpha B, lysosomal
MCOLN1 Mucolipidosis IV
MEGF8 Carpenter syndrome 2
MYH14 Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Deafness, autosomal dominant 4B
Deafness, autosomal dominant 4
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP7 Hydatidiform mole, recurrent, 1
NPHS1 Nephrotic syndrome, type 1
NUP62 Striatonigral degeneration, infantile
OPA3 Optic atrophy 3, autosomal dominant
3-methylglutaconic aciduria, type III
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PRKCG Spinocerebellar ataxia 14
PRX Charcot-Marie-Tooth disease, type 4F
Dejerine-Sottas disease
RGS9BP Bradyopsia
RYR1 Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
Minicore myopathy with external ophthalmoplegia
Multicore myopathy
Minicore myopathy
Central core disease
Malignant hyperthermia, susceptibility 1
S1PR2 Deafness, autosomal recessive 68
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
SCN1B Brugada syndrome 5
Atrial fibrillation, familial 13
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
SIX5 Branchiootorenal syndrome 2
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
TGFB1 Camurati-Engelmann disease
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TNNT1 Nemaline myopathy 5
TSEN34 Pontocerebellar hypoplasia type 2C
TUBB4A Leukodystrophy, hypomyelinating, 6
Dystonia 4, torsion, autosomal dominant
TYK2 Immunodeficiency 35
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2 Schizophrenia
ZNF480 Schizophrenia
ZNF565 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 8151
Number of Genes: 771

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 mm170241ct 19 rs893184
dbSNP
58864479 846.77 T C . 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84844 0.84840 0.10849 0.91 0.00 None None None None None None None

ABCA7

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 mm170241ct 19 rs3752246
dbSNP
1056492 1661.77 G C . 1/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82548 0.82550 0.12788 1.00 0.00 None None None None None None T|T|.
View mm170241ct 19 rs4147934
dbSNP
1065018 423.77 G T . 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60503 0.60500 0.25026 0.88 0.10 None None None None None None None
View mm170241ct 19 rs3752240
dbSNP
1051214 222.77 A G . 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.28914 0.28910 0.36546 None None None None None None None
View mm170241ct 19 rs4147935
dbSNP
1065044 297.77 C T . 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.26141 None None None None None None None
View mm170241ct 19 rs881768
dbSNP
1056065 202.77 A G . 0/1 19 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.44209 0.44210 0.45937 None None None None None None None
View mm170241ct 19 rs3745842
dbSNP
1055191 345.77 G A . 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39058 0.39060 0.40647 0.54 0.00 None None None None None None None
View mm170241ct 19 rs3752237
dbSNP
1047161 734.77 A G . 0/1 51 SYNONYMOUS_CODING LOW SILENT 0.69529 0.69530 0.37591 None None None None None None None
View mm170241ct 19 rs3764645
dbSNP
1042809 267.77 A G . 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39956 0.39960 0.38867 0.48 0.00 None None None None None None None
View mm170241ct 19 rs3752234
dbSNP
1047002 340.77 A G . 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.57887 0.57890 0.46635 None None None None None None None
View mm170241ct 19 rs3764652
dbSNP
1052005 244.77 C T . 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.37939 0.37940 0.40154 None None None None None None D|D|.
View mm170241ct 19 rs3752243
dbSNP
1054060 1008.77 A G . 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.53614 0.53610 0.47355 None None None None None None None
View mm170241ct 19 rs4147930
dbSNP
1064193 652.77 G A . 1/1 19 SYNONYMOUS_CODING LOW SILENT 0.60643 0.60640 0.29566 None None None None None None None

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 mm170241ct 19 rs4807160
dbSNP
1880950 199.77 T C . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63099 0.63100 0.36662 1.00 0.00 None None None None None None T

AC006486.1

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 mm170241ct 19 rs117970118
dbSNP
42747230 733.77 G C . 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07268 0.07268 0.00 None None None None None None None
View mm170241ct 19 rs11878620
dbSNP
42747229 607.77 G A . 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11302 0.11300 0.00 None None None None None None None

AC009892.10

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 mm170241ct 19 rs1808512
dbSNP
55147445 151.77 G C . 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02875 0.02875 0.00 None None None None None None None
View mm170241ct 19 rs113420280
dbSNP
55147509 421.77 C T . 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11202 0.11200 0.00 None None None None None None None

AC010642.1

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 mm170241ct 19 rs260501
dbSNP
58790807 123.03 T G . 1/1 5 SYNONYMOUS_CODING LOW SILENT 0.60663 0.60660 None None None None None None None
View mm170241ct 19 rs437229
dbSNP
58790675 1335.77 T C . 1/1 43 SYNONYMOUS_CODING LOW SILENT 0.64477 0.64480 None None None None None None None
View mm170241ct 19 rs374431
dbSNP
58790713 749.77 G C . 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60623 0.60620 0.00 0.00 None None None None None None None

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 mm170241ct 19 rs1865091
dbSNP
39932066 172.77 T C . 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63998 0.64000 0.24 0.00 None None None None None None None

AC012313.1

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 mm170241ct 19 rs569224431
dbSNP
58908367 239.77 A G . 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00260 0.00260 0.17 0.02 None None None None None None None
View mm170241ct 19 rs13345602
dbSNP
58908185 405.77 T C . 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.14397 0.14400 None None None None None None None
View mm170241ct 19 rs13343526
dbSNP
58908150 1042.77 C G . 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85503 0.85500 1.00 0.00 None None None None None None None
View mm170241ct 19 rs61741018
dbSNP
58908180 436.77 G C . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06669 0.06669 0.03 0.59 None None None None None None None

AC018755.1

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 mm170241ct 19 rs35740364
dbSNP
52097401 1793.77 T C . 0/1 100 SYNONYMOUS_CODING LOW SILENT 0.16913 0.16910 None None None None None None None

AC020907.1

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 mm170241ct 19 rs2445826
dbSNP
35597352 674.77 T C . 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.99101 0.99100 None None None None None None None
View mm170241ct 19 rs7258700
dbSNP
35597729 2445.77 C T . 1/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48363 0.48360 1.00 0.00 None None None None None None None
View mm170241ct 19 rs10424084
dbSNP
35597462 1809.77 A G . 1/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48742 0.48740 0.63 0.00 None None None None None None None
View mm170241ct 19 rs10423723
dbSNP
35597620 2908.77 C T . 1/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48722 0.48720 0.07 0.02 None None None None None None None

AC020922.1

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 mm170241ct 19 rs761097492
dbSNP
55856415 372.73 T TG . 0/1 37 FRAME_SHIFT HIGH None None None None None None None
View mm170241ct 19 rs10405231
dbSNP
55856211 643.77 C T . 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.49241 0.49240 0.40018 None None None None None None None

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 mm170241ct 19 rs778971
dbSNP
5867748 2955.77 G T . 1/1 87 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.63878 0.63880 0.46529 0.09 0.62 None None None None None None None

AC025278.1

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 mm170241ct 19 rs8108169,rs79093815
dbSNP
7012026 347.77 A G . 1/1 17 SYNONYMOUS_CODING LOW SILENT 0.32568 0.32570 None None None None None None None

AC074212.3

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 mm170241ct 19 rs12982642
dbSNP
46264963 567.77 C T . 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.03215 0.03215 None None None None None None None
View mm170241ct 19 rs725660
dbSNP
46262286 1336.77 C A . 0/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29253 0.29250 0.01 0.99 None None None None None None None
View mm170241ct 19 rs8112282
dbSNP
46265029 383.77 C T . 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.53674 0.53670 None None None None None None None

ACER1

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 mm170241ct 19 rs16993553
dbSNP
6333476 1051.77 G A . 0/1 95 SYNONYMOUS_CODING LOW SILENT 0.09006 0.09006 0.06968 None None None None None None None

ACP5

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 mm170241ct 19 rs62638747
dbSNP
11687908 837.77 G A . 0/1 92 SYNONYMOUS_CODING LOW SILENT 0.06470 0.06470 0.09157 None None None None None None None
View mm170241ct 19 rs2229531
dbSNP
11687195 131.77 C T . 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07129 0.07129 0.08214 0.01 0.81 None None None None None None None
View mm170241ct 19 rs2305799
dbSNP
11687351 324.77 C T . 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08127 0.08127 0.09196 0.10 0.29 None None None None None None None

ACPT

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 mm170241ct 19 rs55716643
dbSNP
51297825 762.77 G A . 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32987 0.32990 0.23512 0.53 0.00 None None None None None None None
View mm170241ct 19 rs55735528
dbSNP
51297826 693.77 C A . 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32987 0.32990 0.23497 1.00 0.00 None None None None None None None

ACSBG2

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 mm170241ct 19 rs4807840
dbSNP
6156483 5223.77 T C . 1/1 154 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71206 0.71210 0.29994 1.00 0.00 None None None None None None None

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 mm170241ct 19 rs2340550
dbSNP
8808942 1079.77 A G . 1/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79173 0.79170 0.28447 0.56 0.00 None None None None None None None
View mm170241ct 19 rs10410943
dbSNP
8808900 1109.77 A G . 1/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79173 0.79170 0.27926 1.00 0.00 None None None None None None None
View mm170241ct 19 rs4804079
dbSNP
8808373 1070.77 G T . 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60004 0.60000 0.47201 0.51 1.00 None None None None None None None

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 mm170241ct 19 rs7255721
dbSNP
8669931 623.77 G C . 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89397 0.89400 0.21830 1.00 0.00 None None None None None None None
View mm170241ct 19 rs4476282
dbSNP
8651562 1263.77 A G . 1/1 37 SYNONYMOUS_CODING LOW SILENT 0.18470 0.18470 0.21728 None None None None None None None
View mm170241ct 19 rs7252299
dbSNP
8645786 468.77 A C . 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99980 0.99980 0.00015 1.00 0.00 None None None None None None None

ADAMTSL5

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 mm170241ct 19 rs265291
dbSNP
1510661 180.84 A G . 1/1 7 SYNONYMOUS_CODING LOW SILENT 0.93570 0.93570 0.06900 None None None None None None None

ADAT3

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 mm170241ct 19 rs150715312
dbSNP
1912251 588.77 A G . 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00280 0.00280 0.01265 0.01 0.51 None None None None None None None

ADCK4

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 mm170241ct 19 rs3865452
dbSNP
41211056 162.77 T C . 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47744 0.47740 0.45248 0.53 0.00 None None None None None None None
View mm170241ct 19 rs11538385
dbSNP
41209477 218.77 C T . 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.22943 0.22940 0.23197 None None None None None None None

ADM5

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 mm170241ct 19 rs45613034
dbSNP
50193437 292.77 C A . 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01078 0.01078 0.00762 0.16 0.17 None None None None None None None

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 mm170241ct 19 rs11539938
dbSNP
3062857 373.77 T C . 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.38538 0.38540 0.35080 None None None None None None None
View mm170241ct 19 rs2302301
dbSNP
3054089 37.77 C T . 0/1 4 None None None 0.15136 0.15140 0.65 0.00 None None None None None None None

AKAP8L

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 mm170241ct 19 rs2058322
dbSNP
15508362 606.77 G C . 1/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.71 0.00 None None None None None None None

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 mm170241ct 19 rs2293009
dbSNP
49967680 572.77 G A . 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31150 0.31150 0.32921 None None None None None None None
View mm170241ct 19 rs7259560
dbSNP
49965173 215.77 A T . 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.30092 0.30090 0.32176 None None None None None None None

AMH

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 mm170241ct 19 rs10417628
dbSNP
2251817 2105.77 T C . 1/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99002 0.99000 0.01798 0.77 0.00 None None None None None None None
View mm170241ct 19 rs7252789
dbSNP
2251512 660.77 T A . 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.91893 0.91890 None None None None None None None
View mm170241ct 19 rs10407022
dbSNP
2249477 993.77 G T . 1/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67592 0.67590 0.26055 0.00 0.07 None None None None None None None

ANGPTL4

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 mm170241ct 19 rs116843064
dbSNP
8429323 208.77 G A . 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00938 0.00939 0.01094 0.01 0.99 None None None None None None None
View mm170241ct 19 rs1044250
dbSNP
8436164 313.77 C T . 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23962 0.23960 0.29140 0.27 0.04 None None None None None None None

ANKLE1

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 mm170241ct 19 rs758109052
dbSNP
17397497 168.8 GTGTT G . 0/1 11 None None None None None None None None None None
View mm170241ct 19 rs77683348
dbSNP
17396344 670.77 G A . 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01018 0.01018 0.01922 0.00 1.00 None None None None None None None
View mm170241ct 19 rs1864116
dbSNP
17393015 60.77 C T . 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63538 0.63540 0.13051 0.21 0.15 None None None None None None None
View mm170241ct 19 rs1864113
dbSNP
17393504 140.77 G C . 0/1 9 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.16019 None None None None None None None
View mm170241ct 19 rs8108174
dbSNP
17393530 238.77 T A . 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46066 0.46070 0.43206 0.01 0.99 None None None None None None None
View mm170241ct 19 rs2363956
dbSNP
17394124 841.77 T G . 0/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46066 0.46070 0.48747 0.03 1.00 None None None None None None None
View mm170241ct 19 rs891017
dbSNP
17394504 1103.77 A C . 0/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63538 0.63540 0.19952 0.48 0.00 None None None None None None None
View mm170241ct 19 rs11086065
dbSNP
17395003 413.77 A G . 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63518 0.63520 0.19914 1.00 0.00 None None None None None None None
View mm170241ct 19 rs11882562
dbSNP
17395055 231.77 C G . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.19922 None None None None None None None
View mm170241ct 19 rs8100241
dbSNP
17392894 123.77 G A . 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42732 0.42730 0.43512 0.01 1.00 None None None None None None None
View mm170241ct 19 rs1465581
dbSNP
17397481 24.78 G T LowQual 0/1 10 None None None 1.00 0.00 None None None None None None None
View mm170241ct 19 rs751599
dbSNP
17396549 340.77 T C . 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.19937 None None None None None None None

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 mm170241ct 19 rs61742016
dbSNP
4207964 822.77 C T . 0/1 63 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.04253 0.04253 0.04275 None None None None None None None
View mm170241ct 19 rs2052191
dbSNP
4200156 150.9 G A . 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40635 0.40630 0.45356 1.00 0.00 None None None None None None None
View mm170241ct 19 rs10413818
dbSNP
4216910 276.77 G A . 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71166 0.71170 0.27616 0.11 0.00 None None None None None None .|T|.|T
View mm170241ct 19 rs7251041
dbSNP
4207852 426.77 C T . 0/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03954 0.03954 0.04229 0.84 0.00 None None None None None None None
View mm170241ct 19 rs142917916
dbSNP
4198484 143.77 G A . 0/1 13 SYNONYMOUS_CODING LOW SILENT 0.03954 0.03954 None None None None None None None
View mm170241ct 19 rs1963331
dbSNP
4198154 181.77 C T . 0/1 11 SYNONYMOUS_CODING LOW SILENT 0.31689 0.31690 None None None None None None None
View mm170241ct 19 rs353693
dbSNP
4217207 1298.77 T G . 1/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97504 0.97500 0.05681 1.00 0.00 None None None None None None None
View mm170241ct 19 rs6510794
dbSNP
4217956 198.84 A G . 1/1 7 SYNONYMOUS_CODING LOW SILENT 0.45048 0.45050 0.37911 None None None None None None None
View mm170241ct 19 rs12978469
dbSNP
4210356 301.22 G A . 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61282 0.61280 0.37995 0.11 0.60 None None None None None None None

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 mm170241ct 19 rs6510271
dbSNP
33117666 390.77 T C . 0/1 29 SYNONYMOUS_CODING LOW SILENT 0.65196 0.65200 0.34084 None None None None None None None
View mm170241ct 19 rs2302970
dbSNP
33098632 441.77 G C . 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26518 0.26520 0.41619 0.79 0.94 None None None None None None None
View mm170241ct 19 rs405858
dbSNP
33106621 857.77 C T . 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.48083 0.48080 0.38974 None None None None None None None
View mm170241ct 19 rs2287669
dbSNP
33110204 284.77 T C . 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46026 0.46030 0.44710 0.22 0.00 None None None None None None None

AP1M1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs3752797
dbSNP
16339715 2505.77 C T . 1/1 80 SYNONYMOUS_CODING LOW SILENT 0.45208 0.45210 0.44187 None None None None None None None

AP2S1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs312185
dbSNP
47342867 529.77 A C . 0/1 42 None None None 0.59066 0.59070 0.48962 0.72 0.00 None None None None None None None

AP3D1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs25673
dbSNP
2109157 590.77 T C . 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07788 0.07788 0.13613 0.90 0.00 None None None None None None None
View mm170241ct 19 rs2074960
dbSNP
2116649 161.77 A G . 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.16334 0.16330 0.17480 None None None None None None None
View mm170241ct 19 rs34569645
dbSNP
2118692 368.77 C T . 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07588 0.07588 0.13243 0.19 0.03 None None None None None None T
View mm170241ct 19 rs20567
dbSNP
2110746 61.77 G A . 0/1 10 SYNONYMOUS_CODING LOW SILENT 0.32508 0.32510 0.29864 None None None None None None None
View mm170241ct 19 rs55698722
dbSNP
2114175 1061.77 T C . 0/1 96 SYNONYMOUS_CODING LOW SILENT 0.07748 0.07748 0.13196 None None None None None None None
View mm170241ct 19 rs25672
dbSNP
2138654 567.77 T G . 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.23642 0.23640 0.33769 None None None None None None None

APBA3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs34868972
dbSNP
3753874 1115.77 G A . 0/1 64 SYNONYMOUS_CODING LOW SILENT 0.09185 0.09185 0.11926 None None None None None None None