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Genes:
A1BG, ABCA7, ABHD17A, ACER1, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADCK4, ALDH16A1, AMH, ANKRD27, ANO8, AP1M1, APBA3, APOC2, APOC4, ARHGAP33, ARHGEF18, ARID3A, ARRDC2, ASPDH, ATF5, ATG4D, ATP1A3, ATP4A, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BCAM, BCAT2, BCKDHA, BIRC8, BLVRB, BTBD2, C19orf12, C19orf40, C19orf44, C19orf45, C19orf59, C19orf73, C3, C5AR1, CABP5, CACNG6, CALR3, CAMSAP3, CAPN12, CARD8, CARM1, CATSPERD, CATSPERG, CC2D1A, CCDC106, CCDC114, CCDC151, CCDC8, CCDC9, CCDC94, CCL25, CD22, CD33, CD37, CD3EAP, CD97, CDKN2D, CEACAM1, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CELF5, CEP89, CERS4, CGB2, CGB5, CGB7, CHAF1A, CHERP, CIB3, CIC, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLPTM1, CNN2, CNOT3, COL5A3, COLGALT1, COMP, COPE, CPAMD8, CRB3, CTU1, CYP2A13, CYP2A6, CYP2A7, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DCAF15, DHX34, DIRAS1, DKFZP761J1410, DKKL1, DLL3, DMKN, DMRTC2, DMWD, DNAAF3, DNAJB1, DNASE2, DNM2, DNMT1, DOT1L, DPY19L3, DUS3L, EBI3, ECH1, EHD2, EID2B, EIF3G, ELANE, ELAVL1, EMC10, EML2, EMR1, EMR2, EMR3, ERCC1, ERCC2, ETFB, EVI5L, EXOSC5, FAM129C, FAM187B, FAM83E, FBN3, FBXO17, FCGBP, FCHO1, FDX1L, FFAR1, FFAR3, FGF21, FIZ1, FKRP, FOSB, FPR1, FPR3, FSD1, FTL, FUT2, FUT3, FUT5, FUT6, FXYD5, GALP, GAPDHS, GATAD2A, GCDH, GDF15, GIPR, GLTSCR2, GNA15, GNG8, GP6, GPATCH1, GPR108, GPR32, GRAMD1A, GRIN3B, GRWD1, GSK3A, GTPBP3, GYS1, GZMM, HAPLN4, HAS1, HAUS5, HAUS8, HCN2, HDGFRP2, HIF3A, HMHA1, HNRNPM, HNRNPUL1, HOMER3, HPN, HRC, HSD17B14, ICAM1, ICAM3, ICAM5, IER2, IFNL1, IFNL3, IL11, IL12RB1, ILF3, ILVBL, INSL3, INSR, IRGC, IRGQ, IZUMO1, JSRP1, KANK3, KCNA7, KCNJ14, KCNN4, KDELR1, KDM4B, KEAP1, KIAA1683, KIR2DL1, KIR2DL3, KIR3DL2, KIR3DL3, KIR3DX1, KIRREL2, KISS1R, KLF1, KLF2, KLK1, KLK10, KLK12, KLK2, KLK3, KLK4, KLK5, KLK7, KLK9, KRI1, LAIR1, LDLR, LGALS14, LGI4, LHB, LIG1, LILRA2, LILRA3, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIPE, LMNB2, LONP1, LPAR2, LPPR3, LRG1, LRP3, LRRC25, LRRC4B, LRRC8E, LSR, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP3K10, MARCH2, MARK4, MAST1, MAU2, MBD3L1, MBOAT7, MCOLN1, MED16, MEF2B, MEIS3, MFSD12, MISP, MOB3A, MPND, MPV17L2, MRPL54, MUM1, MYO1F, MZF1, NAPSA, NAT14, NCAN, NCLN, NDUFA3, NDUFA7, NDUFS7, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP7, NLRP8, NLRP9, NOVA2, NPAS1, NPHS1, NTN5, NUCB1, NUDT19, NUP62, NWD1, NXNL1, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7D2, OR7G1, OR7G2, OR7G3, OSCAR, PALM, PAPL, PCP2, PCSK4, PDE4C, PEG3, PGLS, PGLYRP2, PIAS4, PIH1D1, PIK3R2, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLEKHA4, PLEKHG2, PLIN3, PLIN5, PLVAP, PNMAL1, PNPLA6, POLR2E, POLRMT, PPAN-P2RY11, PPAP2C, PPFIA3, PPP1R15A, PPP2R1A, PPP5C, PRKCG, PRKD2, PRODH2, PRPF31, PRR22, PRRG2, PRSS57, PRTN3, PRX, PSG1, PSG2, PSG3, PSG4, PSG5, PSG6, PSMC4, PTBP1, PTGER1, PTGIR, PTPRH, PTPRS, PVR, PVRL2, QPCTL, R3HDM4, RAB8A, RASIP1, RDH13, RDH8, REXO1, RFX1, RFX2, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RNF126, RPS16, RRAS, RUVBL2, RYR1, S1PR2, S1PR5, SAFB, SBK2, SCAF1, SDHAF1, SEMA6B, SERTAD1, SERTAD3, SGTA, SH2D3A, SHANK1, SHD, SHKBP1, SIGLEC10, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC7, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC1A6, SLC25A42, SLC27A5, SLC35E1, SLC39A3, SLC44A2, SLC8A2, SMARCA4, SNAPC2, SNRNP70, SPHK2, SPIB, STAP2, STX10, STXBP2, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SYNE4, SYT3, TBC1D17, TBXA2R, TCF3, TEX101, TGFB1, THEG, TIMM44, TIMM50, TJP3, TMC4, TMEM143, TMEM150B, TMEM160, TMEM161A, TMEM259, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFSF14, TNFSF9, TNNI3, TNNT1, TPGS1, TRAPPC5, TSEN34, TSHZ3, TSKS, TSSK6, TUBB4A, U2AF2, UBA2, UBE2S, UBXN6, UPK1A, USHBP1, USP29, VSTM1, WDR18, WDR62, WDR88, XAB2, XRCC1, ZBTB32, ZBTB45, ZC3H4, ZFP28, ZFP36, ZIM2, ZNF100, ZNF112, ZNF132, ZNF135, ZNF14, ZNF146, ZNF155, ZNF160, ZNF175, ZNF177, ZNF180, ZNF221, ZNF222, ZNF223, ZNF224, ZNF227, ZNF229, ZNF233, ZNF235, ZNF256, ZNF264, ZNF266, ZNF28, ZNF285, ZNF304, ZNF320, ZNF324, ZNF331, ZNF333, ZNF347, ZNF350, ZNF382, ZNF414, ZNF415, ZNF417, ZNF419, ZNF420, ZNF429, ZNF431, ZNF432, ZNF443, ZNF446, ZNF45, ZNF468, ZNF470, ZNF471, ZNF480, ZNF490, ZNF493, ZNF497, ZNF507, ZNF524, ZNF530, ZNF543, ZNF544, ZNF549, ZNF550, ZNF554, ZNF555, ZNF557, ZNF565, ZNF566, ZNF567, ZNF57, ZNF571, ZNF573, ZNF577, ZNF582, ZNF583, ZNF584, ZNF585B, ZNF586, ZNF587, ZNF600, ZNF606, ZNF607, ZNF610, ZNF613, ZNF614, ZNF615, ZNF625, ZNF626, ZNF627, ZNF653, ZNF667, ZNF675, ZNF676, ZNF677, ZNF682, ZNF701, ZNF708, ZNF709, ZNF71, ZNF77, ZNF772, ZNF773, ZNF8, ZNF816, ZNF83, ZNF846, ZNF85, ZNF91, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN5A,

Genes at Omim

ABCA7, ACTN4, ADAMTS10, AMH, APOC2, ARHGEF18, ATP1A3, B9D2, BCAT2, BCKDHA, C19orf12, C3, CC2D1A, CCDC114, CCDC151, CCDC8, CIC, COLGALT1, COMP, CPAMD8, CYP2A6, DLL3, DNAAF3, DNM2, DNMT1, ELANE, ERCC1, ERCC2, ETFB, FDX1L, FKRP, FTL, FUT2, FUT3, FUT6, GCDH, GIPR, GP6, GTPBP3, GYS1, ICAM1, IFNL3, IL12RB1, INSL3, INSR, KCNN4, KISS1R, KLF1, KLK1, KLK4, LDLR, LGI4, LHB, LIPE, LMNB2, LONP1, MAG, MAN2B1, MAP2K2, MAST1, MBOAT7, MCOLN1, NDUFS7, NLRP12, NPHS1, NUP62, PIK3R2, PIP5K1C, PLEKHG2, PLVAP, PNPLA6, PPP2R1A, PRKCG, PRPF31, PRX, RFXANK, RGS9BP, RYR1, S1PR2, SDHAF1, SIPA1L3, SIX5, SMARCA4, STXBP2, SULT2B1, SYNE4, TBXA2R, TCF3, TGFB1, TIMM50, TNNI3, TNNT1, TSEN34, TUBB4A, 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)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
APOC2 Hyperlipoproteinemia, type Ib, 207750 (3)
ARHGEF18 Retinitis pigmentosa 78, 617433 (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
B9D2 Joubert syndrome 34, 614175 (3)
?Meckel syndrome 10, 614175 (3)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
C19orf12 Neurodegeneration with brain iron accumulation 4, 614298 (3)
?Spastic paraplegia 43, autosomal recessive, 615043 (3)
C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
C3 deficiency, 613779 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
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)
CIC Mental retardation, autosomal dominant 45, 617600 (3)
COLGALT1 Brain small vessel disease 3, 618360 (3)
COMP Epiphyseal dysplasia, multiple, 1, 132400 (3)
Pseudoachondroplasia, 177170 (3)
CPAMD8 Anterior segment dysgenesis 8, 617319 (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)
DNM2 Centronuclear myopathy 1, 160150 (3)
Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3)
Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)
Lethal congenital contracture syndrome 5, 615368 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (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)
ETFB Glutaric acidemia IIB, 231680 (3)
FDX1L Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3)
FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3)
FTL Hyperferritinemia-cataract syndrome, 600886 (3)
L-ferritin deficiency, dominant and recessive, 615604 (3)
Neurodegeneration with brain iron accumulation 3, 606159 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
GCDH Glutaricaciduria, type I, 231670 (3)
GIPR [Plasma glucose, 2-hour, QTL 2] (2)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
GYS1 Glycogen storage disease 0, muscle, 611556 (3)
ICAM1 {Malaria, cerebral, susceptibility to}, 611162 (3)
IFNL3 {Hepatitis C virus infection, response to therapy of}, 609532 (3)
IL12RB1 Immunodeficiency 30, 614891 (3)
INSL3 Cryptorchidism, 219050 (3)
INSR Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Leprechaunism, 246200 (3)
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Rabson-Mendenhall syndrome, 262190 (3)
KCNN4 Dehydrated hereditary stomatocytosis 2, 616689 (3)
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)
?Precocious puberty, central, 1, 176400 (3)
KLF1 Blood group--Lutheran inhibitor, 111150 (3)
Dyserythropoietic anemia, congenital, type IV, 613673 (3)
[Hereditary persistence of fetal hemoglobin], 613566 (3)
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)
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)
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)
NDUFS7 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NPHS1 Nephrotic syndrome, type 1, 256300 (3)
NUP62 Striatonigral degeneration, infantile, 271930 (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)
PLVAP Diarrhea 10, protein-losing enteropathy type, 618183 (3)
PNPLA6 Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
?Laurence-Moon syndrome, 245800 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
PPP2R1A Mental retardation, autosomal dominant 36, 616362 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRPF31 Retinitis pigmentosa 11, 600138 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (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)
SIPA1L3 ?Cataract 45, 616851 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (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)
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)
TSEN34 ?Pontocerebellar hypoplasia type 2C, 612390 (3)
TUBB4A Leukodystrophy, hypomyelinating, 6, 612438 (3)
Dystonia 4, torsion, autosomal dominant, 128101 (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, APOC2, ATP1A3, B9D2, BCAM, BCKDHA, C3, CALR3, CC2D1A, CCDC114, CCDC151, CCDC8, COMP, CYP2A6, CYP4F2, DLL3, DNM2, DNMT1, ELANE, ERCC1, ERCC2, ETFB, FKRP, FTL, FUT3, FUT6, GCDH, GP6, GTPBP3, GYS1, IFNL3, IL12RB1, INSL3, INSR, KCNN4, KISS1R, KLF1, KLK4, LDLR, LHB, LIPE, LMNB2, LONP1, MAG, MAN2B1, MAP2K2, MCOLN1, NDUFS7, NLRP12, NLRP7, NPHS1, NUP62, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, PPP2R1A, PRKCG, PRPF31, PRX, RFXANK, RGS9BP, RYR1, S1PR2, SDHAF1, SIPA1L3, SIX5, SMARCA4, STXBP2, SYNE4, TBXA2R, TCF3, TGFB1, TNNI3, TNNT1, TSEN34, TUBB4A, 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
APOC2 Hyperlipoproteinemia, type Ib
ATP1A3 Alternating hemiplegia of childhood 2
B9D2 Meckel syndrome 10
BCAM Blood group, Lutheran system
Blood group, Auberger system
Lutheran, null
BCKDHA Maple syrup urine disease, type Ia
C3 Complement component 3 deficiency, autosomal recessive
Hemolytic uremic syndrome, atypical, susceptibility to, 5
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
COMP Pseudoachondroplasia
Multiple ephiphyseal dysplasia
CYP2A6 CYP2A6-related drug metabolism
CYP4F2 Warfarin metabolism
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DNM2 Charcot-Marie-Tooth disease, dominant intermediate B
Charcot-Marie-Tooth disease, axonal, type 2M
Myopathy, centronuclear
Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive
DNMT1 Neuropathy, hereditary sensory, type IE
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
ELANE Neutropenia, severe congenital 1, autosomal dominant
Neutropenia, cyclic
ERCC1 Cerebrooculofacioskeletal syndrome 4
ERCC2 Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
ETFB Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
FTL L-ferritin deficiency
Neurodegeneration with brain iron accumulation 3
Hyperferritinemia-cataract syndrome
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
GCDH Glutaric aciduria, type I
GP6 Bleeding disorder, platelet-type, 11
GTPBP3 Combined oxidative phosphorylation deficiency 23
GYS1 Glycogen storage disease, type 0, muscle
IFNL3 Drug metabolism, IL28B-related
IL12RB1 Immunodeficiency 30
INSL3 Cryptorchidism
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
KCNN4 Dehydrated hereditary stomatocytosis 2
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
KLF1 Anemia, dyserythropoietic congenital, type IV
Blood group, Lutheran inhibitor
KLK4 Amelogenesis imperfecta, type IIA1
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
MAG Spastic paraplegia, autosomal recessive 75
MAN2B1 Mannosidosis, alpha B, lysosomal
MAP2K2 Cardiofaciocutaneous syndrome
MCOLN1 Mucolipidosis IV
NDUFS7 Mitochondrial complex I deficiency
Leigh syndrome
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP7 Hydatidiform mole, recurrent, 1
NPHS1 Nephrotic syndrome, type 1
NUP62 Striatonigral degeneration, infantile
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
PPP2R1A Mental retardation, autosomal dominant 36
PRKCG Spinocerebellar ataxia 14
PRPF31 Retinitis pigmentosa 11
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
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
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
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2 Schizophrenia
ZNF480 Schizophrenia
ZNF565 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 1487
Number of Genes: 613

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 na12878 recessive 19 rs893184
dbSNP Clinvar
58864479 12876.6 T C PASS 1/1 336 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 na12878 recessive 19 rs4147935
dbSNP Clinvar
1065044 139.84 C T PASS 0/1 8 SYNONYMOUS_CODING LOW None 0.26141 None None None None None None ABCA7|0.007770288|82.8%
View na12878 recessive 19 rs4147934
dbSNP Clinvar
1065018 172.76 G T PASS 0/1 7 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 na12878 recessive 19 rs3764645
dbSNP Clinvar
1042809 1426.29 A G PASS 0/1 110 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 na12878 recessive 19 rs4147930
dbSNP Clinvar
1064193 426.98 G A PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.60643 0.60640 0.29566 None None None None None None ABCA7|0.007770288|82.8%
View na12878 recessive 19 rs3752237
dbSNP Clinvar
1047161 749.48 A G PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.69529 0.69530 0.37591 None None None None None None ABCA7|0.007770288|82.8%
View na12878 recessive 19 rs3752234
dbSNP Clinvar
1047002 221.77 A G PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.57887 0.57890 0.46635 None None None None None None ABCA7|0.007770288|82.8%
View na12878 recessive 19 rs3752240
dbSNP Clinvar
1051214 1485.43 A G PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.28914 0.28910 0.36546 None None None None None None ABCA7|0.007770288|82.8%
View na12878 recessive 19 rs3752246
dbSNP Clinvar
1056492 777.78 G C PASS 0/1 40 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 na12878 recessive 19 rs72973581
dbSNP Clinvar
1043103 1016.92 G A PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.01977 0.01977 0.04630 0.65 0.00 None None None None None None ABCA7|0.007770288|82.8%

ABHD17A

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 na12878 recessive 19 rs4807160
dbSNP Clinvar
1880950 1415.25 T C PASS 1/1 39 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%

ACER1

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 na12878 recessive 19 rs72981971
dbSNP Clinvar
6312290 6402.43 T C PASS 0/1 329 NON_SYNONYMOUS_CODING MODERATE None 0.15994 0.15990 0.09519 0.82 0.02 None None None None None None ACER1|0.011802088|79.38%

ACSBG2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 recessive 19 rs4807840
dbSNP Clinvar
6156483 1671.64 T C PASS 0/1 85 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 na12878 recessive 19 rs33937754
dbSNP Clinvar
6156510 1887.8 A G PASS 0/1 120 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%

ACTL9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 recessive 19 rs10410943
dbSNP Clinvar
8808900 2427.61 A G PASS 0/1 195 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 na12878 recessive 19 rs2340550
dbSNP Clinvar
8808942 2155.01 A G PASS 0/1 141 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 na12878 recessive 19 rs4804079
dbSNP Clinvar
8808373 856.98 G T PASS 0/1 58 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%

ACTN4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 recessive 19 rs3745859
dbSNP Clinvar
39196745 3779.32 C T PASS 1/1 88 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33926 0.33930 0.39236 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 na12878 recessive 19 rs7255721
dbSNP Clinvar
8669931 325.24 G C PASS 0/1 27 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 na12878 recessive 19 rs7252299
dbSNP Clinvar
8645786 1737.61 A C PASS 1/1 44 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 na12878 recessive 19 rs4476282
dbSNP Clinvar
8651562 2112.73 A G PASS 0/1 193 SYNONYMOUS_CODING LOW None 0.18470 0.18470 0.21728 None None None None None None ADAMTS10|0.099701531|51.23%

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 na12878 recessive 19 rs3865452
dbSNP Clinvar
41211056 1670.51 T C PASS 1/1 45 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%

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 na12878 recessive 19 rs2293009
dbSNP Clinvar
49967680 702.39 G A PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.31150 0.31150 0.32921 None None None None None None ALDH16A1|0.021103617|73.62%
View na12878 recessive 19 rs1320303
dbSNP Clinvar
49964977 1085.86 C G PASS 0/1 50 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%

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 na12878 recessive 19 rs10417628
dbSNP Clinvar
2251817 2343.27 T C PASS 1/1 61 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 na12878 recessive 19 rs10407022
dbSNP Clinvar
2249477 1374.38 G T PASS 1/1 37 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%

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 na12878 recessive 19 rs6510271
dbSNP Clinvar
33117666 3728.96 T C PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.65196 0.65200 0.34084 None None None None None None ANKRD27|0.115031878|48.32%
View na12878 recessive 19 rs2287669
dbSNP Clinvar
33110204 2627.96 T C PASS 1/1 71 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 na12878 recessive 19 rs405858
dbSNP Clinvar
33106621 14995.5 C T PASS 1/1 352 SYNONYMOUS_CODING LOW None 0.48083 0.48080 0.38974 None None None None None None ANKRD27|0.115031878|48.32%
View na12878 recessive 19 rs2302970
dbSNP Clinvar
33098632 1529.03 G C PASS 1/1 36 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%

ANO8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 recessive 19 rs8102944
dbSNP Clinvar
17438642 1451.74 A G PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.62181 0.62180 0.24289 None None None None None None ANO8|0.037387399|66.65%
View na12878 recessive 19 rs12977101
dbSNP Clinvar
17434587 10.87 T G ESPStandard;LowQual 0/1 1 SYNONYMOUS_CODING LOW None 0.61861 0.61860 None None None None None None ANO8|0.037387399|66.65%
View na12878 recessive 19 rs755123
dbSNP Clinvar
17435884 1788.51 T C PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.61881 0.61880 0.24758 None None None None None None ANO8|0.037387399|66.65%
View na12878 recessive 19 rs56286266
dbSNP Clinvar
17435887 915.64 C T PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.24621 0.24620 0.27157 None None None None None None ANO8|0.037387399|66.65%

AP1M1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 recessive 19 rs3752797
dbSNP Clinvar
16339715 4023.98 C T PASS 0/1 219 SYNONYMOUS_CODING LOW None 0.45208 0.45210 0.44187 None None None None None None AP1M1|0.058029862|60.39%

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 na12878 recessive 19 rs8102086
dbSNP Clinvar
3752874 1836.53 A G PASS 1/1 49 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 na12878 recessive 19 rs34868972
dbSNP Clinvar
3753874 191.37 G A PASS 0/1 12 SYNONYMOUS_CODING LOW None 0.09185 0.09185 0.11926 None None None None None None APBA3|0.009354531|81.41%
View na12878 recessive 19 rs3746120
dbSNP Clinvar
3753769 495.67 C T PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.34006 0.34010 0.32226 None None None None None None APBA3|0.009354531|81.41%

APOC2

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 na12878 recessive 19 rs746338249
dbSNP Clinvar
45452438 36.16 G C ESPStandard;LowQual 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.54 None None None None None None APOC4|0.001267277|94.07%,APOC4-APOC2|0.001598854|92.35%,APOC2|0.002869869|88.9%

APOC4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 recessive 19 rs5167
dbSNP Clinvar
45448465 1082.98 T G PASS 0/1 92 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%
View na12878 recessive 19 rs1132899
dbSNP Clinvar
45448036 1231.42 T C PASS 0/1 60 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%

ARHGAP33

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 recessive 19 rs231233
dbSNP Clinvar
36271139 7348.39 C T PASS 1/1 174 SYNONYMOUS_CODING LOW None 0.16973 0.16970 0.16100 None None None None None None ARHGAP33|0.074124913|56.5%
View na12878 recessive 19 rs231228
dbSNP Clinvar
36268771 18490.8 C T PASS 1/1 453 SYNONYMOUS_CODING LOW None 0.28954 0.28950 0.25181 None None None None None None ARHGAP33|0.074124913|56.5%
View na12878 recessive 19 rs231235
dbSNP Clinvar
36278470 1088.58 C G PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.53474 0.53470 0.44447 None None None None None None ARHGAP33|0.074124913|56.5%

ARHGEF18

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 recessive 19 rs2287914
dbSNP Clinvar
7524846 151.36 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.18730 0.18730 0.20567 None None None None None None ARHGEF18|0.021386843|73.49%
View na12878 recessive 19 rs9329368
dbSNP Clinvar
7533850 432.58 A G PASS 0/1 30 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 na12878 recessive 19 rs2287915
dbSNP Clinvar
7524855 165.4 C T PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.22704 0.22700 0.21197 None None None None None None ARHGEF18|0.021386843|73.49%
View na12878 recessive 19 rs2287918
dbSNP Clinvar
7528734 845.61 A G PASS 0/1 58 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 na12878 recessive 19 rs10405143
dbSNP Clinvar
7533767 285.09 T G PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.79054 0.79050 0.22986 None None None None None None ARHGEF18|0.021386843|73.49%
View na12878 recessive 19 rs2303142
dbSNP Clinvar
7532252 81.69 G C PASS 1/1 3 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
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 recessive 19 rs6510986
dbSNP Clinvar
966693 362.91 C T PASS 1/1 10 SYNONYMOUS_CODING LOW None 0.71486 0.71490 0.18296 None None None None None None ARID3A|0.039022569|66.1%
View na12878 recessive 19 rs3826948
dbSNP Clinvar
929678 115.39 G A PASS 0/1 10 SYNONYMOUS_CODING LOW None 0.46086 0.46090 0.42350 None None None None None None ARID3A|0.039022569|66.1%
View na12878 recessive 19 . 929690 18.23 G T ESPStandard;LowQual 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.48 0.00 None None None None None None ARID3A|0.039022569|66.1%
View na12878 recessive 19 rs1799595
dbSNP Clinvar
929753 35.24 A G ESPStandard;LowQual 0/1 5 SYNONYMOUS_CODING LOW None 0.88419 0.88420 0.12487 None None None None None None ARID3A|0.039022569|66.1%
View na12878 recessive 19 rs12608658
dbSNP Clinvar
965043 3592.08 T C PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.93890 0.93890 0.05167 None None None None None None ARID3A|0.039022569|66.1%
View na12878 recessive 19 rs1051505
dbSNP Clinvar
971949 1865.71 G A PASS 1/1 46 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 na12878 recessive 19 rs1051504
dbSNP Clinvar
971933 4162.74 A G PASS 1/1 109 SYNONYMOUS_CODING LOW None 0.59485 0.59480 0.27105 None None None None None None ARID3A|0.039022569|66.1%

ARRDC2

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 na12878 recessive 19 rs8100681
dbSNP Clinvar
18121466 1917.37 C T PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.05391 0.05391 0.07151 None None None None None None ARRDC2|0.008925773|81.73%
View na12878 recessive 19 rs17852059
dbSNP Clinvar
18121154 775.74 G A PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.05371 0.05371 0.07099 None None None None None None ARRDC2|0.008925773|81.73%
View na12878 recessive 19 rs7259041
dbSNP Clinvar
18123738 3092.29 T C PASS 0/1 202 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%

ASPDH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View na12878 recessive 19 rs12977172
dbSNP Clinvar
51015404 122.16 T C PASS 1/1 4 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 na12878 recessive 19 rs283525
dbSNP Clinvar
50435747 4143.17 T C PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.66813 0.66810 0.38590 None None None None None None ATF5|0.036517544|66.96%
View na12878 recessive 19 rs283526
dbSNP Clinvar
50435862 407.89 C T PASS 1/1 11 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%

ATG4D

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 na12878 recessive 19 rs2304165
dbSNP Clinvar
10659659 2070.11 C T PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.13059 0.13060 0.12733 None None None None None None ATG4D|0.042774508|64.87%

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 na12878 recessive 19 rs2217342
dbSNP Clinvar
42489516 4782.68 A C PASS 1/1 129 SYNONYMOUS_CODING LOW None 0.90156 0.90160 0.07028 None None None None None None ATP1A3|0.149065263|43.12%

ATP4A

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 na12878 recessive 19 rs2733743
dbSNP Clinvar
36050969 2395.0 A G PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.77157 0.77160 0.07375 1.00 0.00 None None None None None None ATP4A|0.257805486|30.94%

AXL

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 na12878 recessive 19 rs7249222
dbSNP Clinvar
41743861 1938.08 A G PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None AXL|0.122230241|47.08%

AZU1

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 na12878 recessive 19 rs595844
dbSNP Clinvar
830854 2604.99 T C PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.66693 0.66690 0.34922 None None None None None None AZU1|0.002495752|89.7%
View na12878 recessive 19 rs12460890
dbSNP Clinvar
829568 1197.92 C T PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.33027 0.33030 0.26057 None None None None None None AZU1|0.002495752|89.7%

B3GNT3

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 na12878 recessive 19 rs2240813
dbSNP Clinvar
17919024 781.35 A T PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.12899 0.12900 0.08521 None None None None None None B3GNT3|0.00215134|90.58%
View na12878 recessive 19 rs36686
dbSNP Clinvar
17922795 30220.4 G A PASS 1/1 760 NON_SYNONYMOUS_CODING MODERATE None 0.74002 0.74000 0.20360 0.12 0.05 None None None None None None B3GNT3|0.00215134|90.58%

B3GNT8

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 na12878 recessive 19 rs284663
dbSNP Clinvar
41932612 3763.49 C T PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.61741 0.61740 0.31906 None None None None None None B3GNT8|0.010708534|80.36%
View na12878 recessive 19 rs284662
dbSNP Clinvar
41932275 5271.13 T C PASS 1/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.62181 0.62180 0.31362 0.89 0.00 None None None None None None B3GNT8|0.010708534|80.36%
View na12878 recessive 19 rs284661
dbSNP Clinvar
41932120 9652.25 C T PASS 1/1 229 SYNONYMOUS_CODING LOW None 0.49082 0.49080 0.44949 None None None None None None B3GNT8|0.010708534|80.36%
View na12878 recessive 19 rs284660
dbSNP Clinvar
41932084 4439.52 G T PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.49101 0.49100 0.44879 None None None None None None B3GNT8|0.010708534|80.36%

B9D2

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 na12878 recessive 19 rs2241714
dbSNP Clinvar
41869392 7005.59 T C PASS 1/1 166 NON_SYNONYMOUS_CODING MODERATE None 0.64956 0.64960 0.27549 0.15 0.01 None None None None None None TMEM91|0.011320437|79.75%,B9D2|0.087237839|53.74%

BCAM

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 na12878 recessive 19 rs1135062
dbSNP Clinvar
45322744 153.0 A G PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.33761 0.57 0.00 None None None None None None BCAM|0.011093426|79.98%

BCAT2

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 na12878 recessive 19 rs11548193
dbSNP Clinvar
49303070 109.2 G C PASS 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.07089 0.07089 0.14562 0.19 0.10 None None None None None None BCAT2|0.021827226|73.26%

BCKDHA

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 na12878 recessive 19 rs34442879
dbSNP Clinvar
41920030 798.21 C T PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.00419 0.00419 0.00754 0.03 0.72 None None None None None None BCKDHA|0.387424816|21.57%
View na12878 recessive 19 rs284652
dbSNP Clinvar
41928652 3387.25 C T PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.61641 0.61640 0.32393 None None None None None None BCKDHA|0.387424816|21.57%
View na12878 recessive 19 rs4674
dbSNP Clinvar
41930396 3568.01 A G PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.61701 0.61700 0.32301 None None None None None None BCKDHA|0.387424816|21.57%

BIRC8

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 na12878 recessive 19 rs2865248
dbSNP Clinvar
53793574 10786.5 A G PASS 1/1 254 SYNONYMOUS_CODING LOW None 0.60244 0.60240 0.36007 None None None None None None BIRC8|0.002356272|90.03%
View na12878 recessive 19 rs8109165
dbSNP Clinvar
53793042 2034.59 G A PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.56230 0.56230 0.40389 0.01 0.01 None None None None None None BIRC8|0.002356272|90.03%

BLVRB

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 na12878 recessive 19 rs1061197
dbSNP Clinvar
40964312 218.2 G A PASS 0/1 20 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10723 0.10720 0.11854 None None None None None None BLVRB|0.146006015|43.58%

BTBD2

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 na12878 recessive 19 rs1610045
dbSNP Clinvar
1997363 2091.46 A G PASS 0/1 142 SYNONYMOUS_CODING LOW None 0.45467 0.45470 0.40351 None None None None None None BTBD2|0.01881083|74.8%
View na12878 recessive 19 rs7253519
dbSNP Clinvar
1986520 1169.07 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.11582 0.11580 0.10903 None None None None None None BTBD2|0.01881083|74.8%

C19orf12

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 na12878 recessive 19 rs10424582
dbSNP Clinvar
30193721 1011.17 G A PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.61382 0.61380 0.24796 None None None None None None C19orf12|0.015097362|77.08%

C19orf40

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 na12878 recessive 19 rs3816032
dbSNP Clinvar
33467515 1376.15 T C PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.18970 0.18970 0.10695 0.58 0.01 None None None None None None C19orf40|0.047805729|63.39%
View na12878 recessive 19 rs2304103
dbSNP Clinvar
33467413 2113.27 C T PASS 0/1 116 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.07029 0.07029 0.05021 0.73 0.01 None None None None None None C19orf40|0.047805729|63.39%
View na12878 recessive 19 rs2304102
dbSNP Clinvar
33467357 2673.63 G A PASS 0/1 163 SYNONYMOUS_CODING LOW None 0.42392 0.42390 0.37821 None None None None None None C19orf40|0.047805729|63.39%

C19orf44

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 na12878 recessive 19 rs728117
dbSNP Clinvar
16612011 1423.3 T C PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.36641 0.36640 0.41058 None None None None None None C19orf44|0.000610915|97.86%
View na12878 recessive 19 rs728116
dbSNP Clinvar
16611978 1537.6 T C PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.36542 0.36540 0.40950 None None None None None None C19orf44|0.000610915|97.86%

C19orf45

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 na12878 recessive 19 rs1133378
dbSNP Clinvar
7573287 1023.23 C T PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.23922 0.23920 0.28384 0.06 0.88 None None None None None None C19orf45|0.001235995|94.26%
View na12878 recessive 19 rs3826736
dbSNP Clinvar
7571030 334.18 T A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.40355 0.40360 0.42357 1.00 0.00 None None None None None None C19orf45|0.001235995|94.26%
View na12878 recessive 19 rs1133380
dbSNP Clinvar
7573301 997.23 C T PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.23942 0.23940 0.27499 None None None None None None C19orf45|0.001235995|94.26%
View na12878 recessive 19 rs475923
dbSNP Clinvar
7573098 270.86 T A PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.28834 0.28830 0.34174 0.08 1.00 None None None None None None C19orf45|0.001235995|94.26%
View na12878 recessive 19 rs685048
dbSNP Clinvar
7570990 1229.96 A G PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.34285 0.34290 0.40281 None None None None None None C19orf45|0.001235995|94.26%
View na12878 recessive 19 rs685034
dbSNP Clinvar
7570978 1524.61 T C PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.63678 0.63680 0.31078 None None None None None None C19orf45|0.001235995|94.26%
View na12878 recessive 19 rs484870
dbSNP Clinvar
7569282 1328.81 A G PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.34844 0.34840 0.40827 1.00 0.00 None None None None None None C19orf45|0.001235995|94.26%
View na12878 recessive 19 rs608144
dbSNP Clinvar
7573297 927.78 T C PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.30092 0.30090 0.34859 1.00 0.00 None None None None None None C19orf45|0.001235995|94.26%