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Genes:
ABCA4, ACTN2, ADAMTSL4, ADAR, ADCK3, ADCY10, ADORA1, ADORA3, AGL, AGRN, AGT, AKR7A3, ALDH4A1, ALG6, ALPL, ALX3, ARHGEF11, ASPM, ATF6, ATP13A2, ATP1A2, ATP2B4, BCL10, C1QA, C1QB, C4BPA, C8A, C8B, CA6, CACNA1E, CACNA1S, CAMTA1, CASP9, CASQ2, CATSPER4, CCDC28B, CD1A, CD1E, CD55, CDA, CDK11A, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CHD1L, CHI3L1, CHI3L2, CHIA, CLCA1, CLCA2, CLCNKA, CLCNKB, CMPK1, CNKSR1, CNR2, COL11A1, COL8A2, CPT2, CR1, CR2, CRB1, CSF1, CSF3R, CTH, CTSK, CYP4A11, CYP4A22, CYP4B1, DARC, DARS2, DBT, DDAH1, DDOST, DDR2, DDX20, DHCR24, DIO1, DISC1, DISP1, DLGAP3, DNAJC6, DPYD, DUSP23, ECM1, EDARADD, EGLN1, EIF2B3, EPHA2, EPHB2, ERMAP, ESPN, ESRRG, EVI5, EXO1, EXO5, F13B, F3, F5, FAAH, FBLIM1, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FMN2, FMO1, FMO2, FMO3, FMO5, FOXD3, FUCA1, GABRD, GFI1, GJA4, GLUL, GNAT2, GNPAT, GON4L, GORAB, GPSM2, GRIK3, GSTM1, GSTM3, GSTM4, H6PD, HIST3H3, HLX, HMCN1, HMGCL, HSD3B1, HSD3B2, HSPB7, HSPG2, ID3, IFI44L, IL12RB2, IL19, IL23R, IL6R, IQGAP3, IRF6, KCNA3, KCNAB2, KCNJ9, KCNN3, KCNQ4, KIF17, KIF1B, KIFAP3, KISS1, LAMB3, LAMC1, LAMTOR2, LBR, LCE5A, LDLRAP1, LEPR, LEPRE1, LHX4, LHX8, LMNA, LOR, LRP8, MASP2, MIA3, MIIP, MMACHC, MMEL1, MR1, MSH4, MTHFR, MTR, MUC1, MUTYH, MYCL, MYOC, NBPF1, NCF2, NEGR1, NEXN, NFIA, NGF, NID1, NLRP3, NOS1AP, NOTCH2, NPHP4, NPHS2, NPPA, NPR1, NTNG1, NTRK1, OBSCN, OPRD1, OPTC, OR13G1, OVGP1, PARP1, PCSK9, PEAR1, PER3, PEX10, PGD, PGM1, PHGDH, PIGM, PIK3CD, PINK1, PKP1, PLA2G2A, PLA2G2D, PLA2G4A, PLEKHG5, PLOD1, POGZ, POMGNT1, PRDM2, PRG4, PRKAA2, PSEN2, PTGS2, PTPN14, PTPN22, PTPRC, PTPRF, RAB7L1, RBM15, RD3, RFX5, RHCE, RNASEL, RPE65, RPL11, RUNX3, RXRG, RYR2, SDC3, SDCCAG8, SDHB, SELE, SELL, SELP, SEMA4A, SEPN1, SERPINC1, SLC16A1, SLC26A9, SLC2A1, SLC41A1, SMYD3, SORT1, SPAG17, SPATA21, SPRR3, SPTA1, SRGAP2, ST3GAL3, STIL, SYT11, SYT2, TAL1, TAS1R1, TAS1R2, TAS1R3, TEKT2, TGFBR3, TLR5, TMEM9, TNFRSF1B, TNNT2, TNR, TP73, TSHB, USH2A, USP24, UTS2, VANGL2, VCAM1, WDR65, ZBTB18, ZBTB40,

Genes at Omim

ABCA4, ACTN2, ADAMTSL4, ADAR, ADCK3, ADCY10, AGL, AGRN, AGT, ALDH4A1, ALG6, ALPL, ALX3, ASPM, ATF6, ATP13A2, ATP1A2, BCL10, C1QA, C1QB, C8A, C8B, CACNA1E, CACNA1S, CAMTA1, CASQ2, CCDC28B, CD55, CFH, CFHR1, CFHR3, CHI3L1, CLCNKA, CLCNKB, COL11A1, COL8A2, CPT2, CR1, CR2, CRB1, CSF3R, CTH, CTSK, DARS2, DBT, DDOST, DDR2, DHCR24, DISC1, DNAJC6, DPYD, ECM1, EDARADD, EGLN1, EIF2B3, EPHA2, EPHB2, ERMAP, ESPN, F13B, F5, FAAH, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FMN2, FMO3, FOXD3, FUCA1, GABRD, GFI1, GLUL, GNAT2, GNPAT, GORAB, GPSM2, H6PD, HMCN1, HMGCL, HSD3B2, HSPG2, IL23R, IL6R, IRF6, KCNQ4, KIF1B, KISS1, LAMB3, LAMTOR2, LBR, LDLRAP1, LEPR, LHX4, LMNA, LOR, LRP8, MASP2, MMACHC, MR1, MTHFR, MTR, MUC1, MUTYH, MYOC, NCF2, NEXN, NFIA, NGF, NLRP3, NOTCH2, NPHP4, NPPA, NTRK1, PCSK9, PER3, PEX10, PGM1, PHGDH, PIGM, PIK3CD, PINK1, PKP1, PLA2G2A, PLA2G4A, PLEKHG5, PLOD1, POGZ, POMGNT1, PRG4, PSEN2, PTPN14, PTPN22, PTPRC, PTPRF, RBM15, RD3, RFX5, RHCE, RNASEL, RPE65, RPL11, RYR2, SDC3, SDCCAG8, SDHB, SEMA4A, SERPINC1, SLC16A1, SLC2A1, SORT1, SPTA1, ST3GAL3, STIL, SYT2, TAL1, TLR5, TNNT2, TSHB, USH2A, VANGL2, ZBTB18,
ABCA4 Fundus flavimaculatus, 248200 (3)
{Macular degeneration, age-related, 2}, 153800 (3)
Cone-rod dystrophy 3, 604116 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinitis pigmentosa 19, 601718 (3)
Stargardt disease 1, 248200 (3)
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)
Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)
ADAMTSL4 Ectopia lentis et pupillae, 225200 (3)
Ectopia lentis, isolated, autosomal recessive, 225100 (3)
ADAR Aicardi-Goutieres syndrome 6, 615010 (3)
Dyschromatosis symmetrica hereditaria, 127400 (3)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
AGL Glycogen storage disease IIIa, 232400 (3)
Glycogen storage disease IIIb, 232400 (3)
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
AGT {Hypertension, essential, susceptibility to}, 145500 (3)
{Preeclampsia, susceptibility to} (3)
Renal tubular dysgenesis, 267430 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
ALG6 Congenital disorder of glycosylation, type Ic, 603147 (3)
ALPL Hypophosphatasia, adult, 146300 (3)
Hypophosphatasia, childhood, 241510 (3)
Hypophosphatasia, infantile, 241500 (3)
Odontohypophosphatasia, 146300 (3)
ALX3 Frontonasal dysplasia 1, 136760 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
ATF6 Achromatopsia 7, 616517 (3)
ATP13A2 Kufor-Rakeb syndrome, 606693 (3)
Spastic paraplegia 78, autosomal recessive, 617225 (3)
ATP1A2 Alternating hemiplegia of childhood 1, 104290 (3)
Migraine, familial basilar, 602481 (3)
Migraine, familial hemiplegic, 2, 602481 (3)
BCL10 {Lymphoma, follicular, somatic}, 605027 (3)
{Male germ cell tumor, somatic}, 273300 (3)
{Mesothelioma, somatic}, 156240 (3)
Lymphoma, MALT, somatic, 137245 (3)
{Sezary syndrome, somatic} (3)
?Immunodeficiency 37, 616098 (3)
C1QA C1q deficiency, 613652 (3)
C1QB C1q deficiency, 613652 (3)
C8A C8 deficiency, type I, 613790 (3)
C8B C8 deficiency, type II, 613789 (3)
CACNA1E Epileptic encephalopathy, early infantile, 69, 618285 (3)
CACNA1S {Malignant hyperthermia susceptibility 5}, 601887 (3)
Hypokalemic periodic paralysis, type 1, 170400 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3)
CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
CCDC28B {Bardet-Biedl syndrome 1, modifier of}, 209900 (3)
CD55 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3)
[Blood group Cromer], 613793 (3)
CFH {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3)
Basal laminar drusen, 126700 (3)
{Macular degeneration, age-related, 4}, 610698 (3)
Complement factor H deficiency, 609814 (3)
CFHR1 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
{Macular degeneration, age-related, reduced risk of}, 603075 (3)
CFHR3 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
{Macular degeneration, age-related, reduced risk of}, 603075 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
CLCNKA Bartter syndrome, type 4b, digenic, 613090 (3)
CLCNKB Bartter syndrome, type 3, 607364 (3)
Bartter syndrome, type 4b, digenic, 613090 (3)
COL11A1 Fibrochondrogenesis 1, 228520 (3)
{Lumbar disc herniation, susceptibility to}, 603932 (3)
Marshall syndrome, 154780 (3)
Stickler syndrome, type II, 604841 (3)
COL8A2 Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)
Corneal dystrophy, posterior polymorphous 2, 609140 (3)
CPT2 CPT II deficiency, infantile, 600649 (3)
CPT II deficiency, lethal neonatal, 608836 (3)
CPT II deficiency, myopathic, stress-induced, 255110 (3)
{Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3)
CR1 CR1 deficiency (1)
{Malaria, severe, resistance to}, 611162 (3)
[Blood group, Knops system], 607486 (3)
{?SLE susceptibility} (1)
CR2 Immunodeficiency, common variable, 7, 614699 (3)
{Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3)
CRB1 Leber congenital amaurosis 8, 613835 (3)
Pigmented paravenous chorioretinal atrophy, 172870 (3)
Retinitis pigmentosa-12, 600105 (3)
CSF3R Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)
CTH Homocysteine, total plasma, elevated (3)
Cystathioninuria, 219500 (3)
CTSK Pycnodysostosis, 265800 (3)
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
DBT Maple syrup urine disease, type II, 248600 (3)
DDOST ?Congenital disorder of glycosylation, type Ir, 614507 (3)
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
Warburg-Cinotti syndrome, 618175 (3)
DHCR24 Desmosterolosis, 602398 (3)
DISC1 {Schizophrenia 9, susceptibility to}, 604906 (3)
DNAJC6 Parkinson disease 19a, juvenile-onset, 615528 (3)
Parkinson disease 19b, early-onset, 615528 (3)
DPYD Dihydropyrimidine dehydrogenase deficiency, 274270 (3)
5-fluorouracil toxicity, 274270 (3)
ECM1 Urbach-Wiethe disease, 247100 (3)
EDARADD Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3)
EGLN1 Erythrocytosis, familial, 3, 609820 (3)
[Hemoglobin, high altitude adaptation], 609070 (3)
EIF2B3 Leukoencephalopathy with vanishing white matter, 603896 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
EPHB2 {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)
ERMAP [Blood group, Radin], 111620 (3)
[Blood group, Scianna system], 111750 (3)
ESPN Deafness, autosomal recessive 36, 609006 (3)
Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)
F13B Factor XIIIB deficiency, 613235 (3)
F5 Factor V deficiency, 227400 (3)
{Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
{Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3)
Thrombophilia due to activated protein C resistance, 188055 (3)
{Budd-Chiari syndrome}, 600880 (3)
FAAH {Drug addiction, susceptibility to}, 606581 (3)
FCGR2A {Lupus nephritis, susceptibility to}, 152700 (3)
{Malaria, severe, susceptibility to}, 611162 (3)
{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FCGR2B {Malaria, resistance to}, 611162 (3)
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
FCGR3A Immunodeficiency 20, 615707 (3)
FCGR3B Neutropenia, alloimmune neonatal (3)
FMN2 Mental retardation, autosomal recessive 47, 616193 (3)
FMO3 Trimethylaminuria, 602079 (3)
FOXD3 {Autoimmune disease, susceptibility to, 1}, 607836 (3)
FUCA1 Fucosidosis, 230000 (3)
GABRD {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3)
{Epilepsy, idiopathic generalized, 10}, 613060 (3)
{Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3)
GFI1 ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3)
?Neutropenia, severe congenital 2, autosomal dominant, 613107 (3)
GLUL Glutamine deficiency, congenital, 610015 (3)
GNAT2 Achromatopsia 4, 613856 (3)
GNPAT Rhizomelic chondrodysplasia punctata, type 2, 222765 (3)
GORAB Geroderma osteodysplasticum, 231070 (3)
GPSM2 Chudley-McCullough syndrome, 604213 (3)
H6PD Cortisone reductase deficiency 1, 604931 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HMGCL HMG-CoA lyase deficiency, 246450 (3)
HSD3B2 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3)
HSPG2 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3)
Schwartz-Jampel syndrome, type 1, 255800 (3)
IL23R {Inflammatory bowel disease 17, protection against}, 612261 (3)
{Psoriasis, protection against}, 605606 (3)
IL6R [Interleukin 6, serum level of, QTL], 614752 (3)
[Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3)
IRF6 {Orofacial cleft 6}, 608864 (3)
Popliteal pterygium syndrome 1, 119500 (3)
van der Woude syndrome, 119300 (3)
KCNQ4 Deafness, autosomal dominant 2A, 600101 (3)
KIF1B {Neuroblastoma, susceptibility to, 1}, 256700 (3)
Pheochromocytoma, 171300 (3)
?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
KISS1 ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
LAMB3 Amelogenesis imperfecta, type IA, 104530 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LAMTOR2 Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3)
LBR Greenberg skeletal dysplasia, 215140 (3)
Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3)
Pelger-Huet anomaly, 169400 (3)
?Reynolds syndrome, 613471 (3)
LDLRAP1 Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
LEPR Obesity, morbid, due to leptin receptor deficiency, 614963 (3)
LHX4 Pituitary hormone deficiency, combined, 4, 262700 (3)
LMNA Cardiomyopathy, dilated, 1A, 115200 (3)
Heart-hand syndrome, Slovenian type, 610140 (3)
Charcot-Marie-Tooth disease, type 2B1, 605588 (3)
Hutchinson-Gilford progeria, 176670 (3)
Lipodystrophy, familial partial, type 2, 151660 (3)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3)
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3)
Malouf syndrome, 212112 (3)
Mandibuloacral dysplasia, 248370 (3)
Muscular dystrophy, congenital, 613205 (3)
Restrictive dermopathy, lethal, 275210 (3)
LOR Vohwinkel syndrome with ichthyosis, 604117 (3)
LRP8 {Myocardial infarction, susceptibility to}, 608446 (3)
MASP2 MASP2 deficiency, 613791 (3)
MMACHC Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
MR1 Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3)
MTHFR Homocystinuria due to MTHFR deficiency, 236250 (3)
{Neural tube defects, susceptibility to}, 601634 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Thromboembolism, susceptibility to}, 188050 (3)
{Vascular disease, susceptibility to} (3)
MTR Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MUC1 Medullary cystic kidney disease 1, 174000 (3)
MUTYH Adenomas, multiple colorectal, 608456 (3)
Gastric cancer, somatic, 613659 (3)
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)
MYOC Glaucoma 1A, primary open angle, 137750 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NEXN Cardiomyopathy, dilated, 1CC, 613122 (3)
Cardiomyopathy, hypertrophic, 20, 613876 (3)
NFIA Brain malformations with or without urinary tract defects, 613735 (3)
NGF Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)
NLRP3 Familial cold inflammatory syndrome 1, 120100 (3)
CINCA syndrome, 607115 (3)
Deafness, autosomal dominant 34, with or without inflammation, 617772 (3)
Keratoendothelitis fugax hereditaria, 148200 (3)
Muckle-Wells syndrome, 191900 (3)
NOTCH2 Alagille syndrome 2, 610205 (3)
Hajdu-Cheney syndrome, 102500 (3)
NPHP4 Nephronophthisis 4, 606966 (3)
Senior-Loken syndrome 4, 606996 (3)
NPPA Atrial fibrillation, familial, 6, 612201 (3)
Atrial standstill 2, 615745 (3)
NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Medullary thyroid carcinoma, familial, 155240 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PEX10 Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3)
Peroxisome biogenesis disorder 6B, 614871 (3)
PGM1 Congenital disorder of glycosylation, type It, 614921 (3)
PHGDH Neu-Laxova syndrome 1, 256520 (3)
Phosphoglycerate dehydrogenase deficiency, 601815 (3)
PIGM Glycosylphosphatidylinositol deficiency, 610293 (3)
PIK3CD Immunodeficiency 14, 615513 (3)
PINK1 Parkinson disease 6, early onset, 605909 (3)
PKP1 Ectodermal dysplasia/skin fragility syndrome, 604536 (3)
PLA2G2A {?Colorectal cancer, susceptibility to}, 114500 (3)
PLA2G4A Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 (3)
PLEKHG5 Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3)
Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)
PLOD1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3)
POGZ White-Sutton syndrome, 616364 (3)
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)
Retinitis pigmentosa 76, 617123 (3)
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
PSEN2 Alzheimer disease-4, 606889 (3)
Cardiomyopathy, dilated, 1V, 613697 (3)
PTPN14 Choanal atresia and lymphedema, 613611 (3)
PTPN22 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
{Systemic lupus erythematosus susceptibility to}, 152700 (3)
{Diabetes, type 1, susceptibility to}, 222100 (3)
PTPRC {Hepatitis C virus, susceptibility to}, 609532 (3)
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3)
PTPRF ?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3)
RBM15 Megakaryoblastic leukemia, acute (2)
RD3 Leber congenital amaurosis 12, 610612 (3)
RFX5 Bare lymphocyte syndrome, type II, complementation group C, 209920 (3)
Bare lymphocyte syndrome, type II, complementation group E, 209920 (3)
RHCE Rh-null disease, amorph type, 617970 (3)
[Blood group, Rhesus] (3)
RNASEL Prostate cancer 1, 601518 (3)
RPE65 Leber congenital amaurosis 2, 204100 (3)
Retinitis pigmentosa 20, 613794 (3)
RPL11 Diamond-Blackfan anemia 7, 612562 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SDC3 {Obesity, association with}, 601665 (3)
SDCCAG8 Bardet-Biedl syndrome 16, 615993 (3)
Senior-Loken syndrome 7, 613615 (3)
SDHB Gastrointestinal stromal tumor, 606764 (3)
Paraganglioma and gastric stromal sarcoma, 606864 (3)
Paragangliomas 4, 115310 (3)
Pheochromocytoma, 171300 (3)
SEMA4A Cone-rod dystrophy 10, 610283 (3)
Retinitis pigmentosa 35, 610282 (3)
SERPINC1 Thrombophilia due to antithrombin III deficiency, 613118 (3)
SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3)
Erythrocyte lactate transporter defect, 245340 (3)
Monocarboxylate transporter 1 deficiency, 616095 (3)
SLC2A1 GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3)
GLUT1 deficiency syndrome 2, childhood onset, 612126 (3)
Dystonia 9, 601042 (3)
Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3)
SORT1 [Low density lipoprotein cholesterol level QTL6], 613589 (3)
SPTA1 Elliptocytosis-2, 130600 (3)
Pyropoikilocytosis, 266140 (3)
Spherocytosis, type 3, 270970 (3)
ST3GAL3 ?Epileptic encephalopathy, early infantile, 15, 615006 (3)
Mental retardation, autosomal recessive 12, 611090 (3)
STIL Microcephaly 7, primary, autosomal recessive, 612703 (3)
SYT2 Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3)
TAL1 Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)
TLR5 {Legionnaire disease, susceptibility to}, 608556 (3)
{Melioidosis, susceptibility to}, 615557 (3)
{Systemic lupus erythematosus, resistance to}, 601744 (3)
{Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3)
TNNT2 Cardiomyopathy, dilated, 1D, 601494 (3)
Cardiomyopathy, familial restrictive, 3, 612422 (3)
Cardiomyopathy, hypertrophic, 2, 115195 (3)
Left ventricular noncompaction 6, 601494 (3)
TSHB Hypothyroidism, congenital, nongoitrous 4, 275100 (3)
USH2A Retinitis pigmentosa 39, 613809 (3)
Usher syndrome, type 2A, 276901 (3)
VANGL2 Neural tube defects, 182940 (3)
ZBTB18 Mental retardation, autosomal dominant 22, 612337 (3)

Genes at Clinical Genomics Database

ABCA4, ACTN2, ADAMTSL4, ADAR, ADCK3, AGL, AGRN, AGT, ALDH4A1, ALG6, ALPL, ALX3, ASPM, ATF6, ATP13A2, ATP1A2, BCL10, C1QA, C1QB, C8A, C8B, CACNA1S, CAMTA1, CASQ2, CCDC28B, CD55, CFH, CFHR1, CFHR3, CFHR4, CLCNKA, CLCNKB, COL11A1, COL8A2, CPT2, CR1, CR2, CRB1, CSF3R, CTH, CTSK, DARS2, DBT, DDOST, DDR2, DHCR24, DNAJC6, DPYD, ECM1, EDARADD, EGLN1, EIF2B3, EPHA2, ERMAP, ESPN, F13B, F5, FCGR3A, FMN2, FMO3, FUCA1, GFI1, GLUL, GNAT2, GNPAT, GORAB, GPSM2, H6PD, HMCN1, HMGCL, HSD3B2, HSPG2, IRF6, KCNQ4, KIF1B, KISS1, LAMB3, LAMTOR2, LBR, LDLRAP1, LEPR, LHX4, LMNA, LOR, MASP2, MMACHC, MR1, MTHFR, MTR, MUC1, MUTYH, MYOC, NCF2, NEXN, NGF, NLRP3, NOTCH2, NPHP4, NPHS2, NPPA, NTRK1, PCSK9, PER3, PEX10, PGM1, PHGDH, PIGM, PIK3CD, PINK1, PKP1, PLA2G4A, PLEKHG5, PLOD1, POGZ, POMGNT1, PRG4, PSEN2, PTPN14, PTPRC, PTPRF, RD3, RFX5, RHCE, RNASEL, RPE65, RPL11, RYR2, SDCCAG8, SDHB, SEMA4A, SEPN1, SERPINC1, SLC16A1, SLC2A1, SLC41A1, SPTA1, ST3GAL3, STIL, SYT2, TNNT2, TSHB, USH2A, VANGL2, ZBTB18,
ABCA4 Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
ACTN2 Cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction
Cardiomyopathy, hypertrophic 23, with or without left ventricular noncompaction
ADAMTSL4 Ectopia lentis, isolated, autosomal recessive
ADAR Dyschromatosis symmetrica hereditaria
Aicardi-Goutieres syndrome 6
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
AGL Glycogen storage disease III
AGRN Myasthenic syndrome, congenital 8
AGT Renal tubular dysgenesis
ALDH4A1 Hyperprolinemia, type II
ALG6 Congenital disorder of glycosylation, type Ic
ALPL Hypophosphatasia, infantile
Odontohypophosphatasia
ALX3 Frontonasal dysplasia 1
ASPM Microcephaly, primary autosomal recessive, 5
ATF6 Achromatopsia 7
ATP13A2 Parkinson disease 9 (Kufor-Rakeb syndrome)
Ceroid lipofuscinosis, neuronal, 12
ATP1A2 Alternating hemiplegia of childhood
Migraine, familial hemiplegic 2
BCL10 Immunodeficiency 37
C1QA C1q deficiency
C1QB C1q deficiency
C8A Complement component 8 deficiency, type I
C8B Complement component 8 deficiency, type II
CACNA1S Malignant hyperthermia susceptibility 5
Thyrotoxic period paralysis, susceptibility 1
Hypokalemic periodic paralysis, type 1
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation
CASQ2 Ventricular tachycardia, catecholaminergic, polymorphic, 2
CCDC28B Bardet-Biedl syndrome, modifier of
CD55 Blood group, Cromer system
CFH Hemolytic uremic syndrome, atypical
Complement factor H deficiency
CFHR1 Hemolytic-uremic syndrome, atypical, susceptibility to
CFHR3 Hemolytic-uremic syndrome, atypical, susceptibility to
CFHR4 Hemolytic-uremic syndrome, atypical, susceptibility to
CLCNKA Bartter syndrome, type 4, digenic
CLCNKB Bartter syndrome, type 3
Bartter syndrome, type 4, digenic
COL11A1 Stickler syndrome, type II
Fibrochondrogenesis
Marshall syndrome
COL8A2 Corneal dystrophy polymorphous posterior, 2
Corneal dystrophy, Fuchs endothelial, 1
CPT2 Carnitine palmitoyltransferase II deficiency
CR1 Blood group, Knops system
CR2 Common variable immune deficiency, 7
CRB1 Leber congenital amaurosis 8
Retinitis pigmentosa 12, autosomal recessive
Pigmented paravenous chorioretinal atrophy
CSF3R Neutrophilia, hereditary
CTH Cystathioninuria
CTSK Pycnodysostosis
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DBT Maple syrup urine disease, type II
DDOST Congenital disorder of glycosylation, type Ir
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type
DHCR24 Desmosterolosis
DNAJC6 Juvenile Parkinsonism, autosomal recessive
DPYD 5-fluorouracil toxicity
ECM1 Lipoid proteinosis
EDARADD Ectodermal dysplasia, anhidrotic, autosomal recessive
Ectodermal dysplasia, anhidrotic, autosomal dominant
Ectodermal dysplasia, hypohidrotic, autosomal dominant
Ectodermal dysplasia, hypohidrotic, autosomal recessive
EGLN1 Erythrocytosis, familial, 3
EIF2B3 Leukoencephalopathy with vanishing white matter
Ovarioleukodystrophy
EPHA2 Cataract 6, multiple types
ERMAP Blood group, Scianna system
Blood group, Radin
ESPN Deafness, autosomal dominant, without vestibular involvement
Deafness, autosomal recessive 36
F13B Factor XIIIB deficiency
F5 Thrombophilia due to activated protein C resistance
Factor V deficiency
FCGR3A Immunodeficiency 20
FMN2 Mental retardation, autosomal recessive, 47
FMO3 Trimethylaminuria
FUCA1 Fucosidosis
GFI1 Neutropenia, severe congenital, 2 autosomal dominant
Neutropenia, nonimmune chronic idiopathic, of adults
GLUL Glutamine deficiency, congenital
GNAT2 Achromatopsia 4
GNPAT Rhizomelic chondrodysplasia punctata, rhizomelic, type 2
GORAB Geroderma osteodysplasticum
GPSM2 Chudley-McCullough syndrome
Deafness, autosomal recessive 82
H6PD Cortisone reductase deficiency
HMCN1 Macular degeneration, age-related, 1
HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HSD3B2 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
HSPG2 Schwartz-Jampel syndrome, type 1
IRF6 Popliteal pterygium syndrome
van der Woude syndrome 1
Orofacial cleft 6
KCNQ4 Deafness, autosomal dominant 2A
KIF1B Neuroblastoma, susceptibility to
Pheochromocytoma
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
LAMB3 Amelogenesis imperfecta, type IA
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, junctional, non-Herlitz type
LAMTOR2 Immunodeficiency due to defect in MAPBP-interacting protein
LBR Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Reynolds syndrome
Pelger-Huet anomaly
Greenberg/HEM skeletal dysplasia
LDLRAP1 Hypercholesterolemia, familial, autosomal recessive
LEPR Leptin receptor deficiency
LHX4 Pituitary hormone deficiency, combined, 4
LMNA Cardiomyopathy, dilated, 1A
Heart-hand syndrome, Slovenian type
Emery-Dreiffus muscular dystrophy, autosomal dominant
Emery-Dreiffus muscular dystrophy 3, autosomal recessive
Muscular dystrophy, congenital, LMNA-related
Limb-girdle muscular dystrophy type 1B
Malouf syndrome
Lipodystrophy, familial partial, 2 (Dunnigan type)
LOR Vohwinkel syndrome, variant form
MASP2 MASP2 deficiency
MMACHC Methylmalonic aciduria and homocystinuria, cblC type
MR1 Paroxysmal nonkinesigenic dyskinesia
MTHFR Homocystinuria due to MTHFR deficiency
MTR Methylmalonic acidemia, cblG type
MUC1 Medullary cystic kidney disease 1
MUTYH Familial adenomatous polyposis, 2
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
MYOC Glaucoma, primary open angle
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NEXN Cardiomyopathy, familial hypertrophic, 20
Cardiomyopathy, dilated, 1CC
NGF Neuropathy, hereditary sensory and autonomic, type V
NLRP3 Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome
Neonatal Onset Multisystem Inflammatory Disease (NOMID)
Muckle-Wells syndrome
NOTCH2 Alagille syndrome 2
NPHP4 Nephronophthisis 4
Senior-Loken syndrome 4
NPHS2 Nephrotic syndrome, type 2
NPPA Atrial fibrillation, familial, 6
Atrial standstill 2
NTRK1 Insensitivity to pain, congenital, with anhidrosis
PCSK9 Hypercholesterolemia, familial, 3
PER3 Advanced sleep phase syndrome, familial, 3
PEX10 Peroxisome biogenesis disorder 6B
Peroxisome biogenesis factor disorder 10
Adrenoleukodystrophy, neonatal
Zellweger syndrome
Ataxia, autosomal recessive
PGM1 Congenital disorder of glycosylation, type It
PHGDH Phosphoglycerate dehydrogenase deficiency
PIGM Glycosylphosphatidylinositol deficiency
PIK3CD Immunodeficiency 14
PINK1 Parkinson disease 6, autosomal recessive, early onset
PKP1 Ectodermal dysplasia/skin fragility syndrome
PLA2G4A Phospholipase A2, group IV A, deficiency of
PLEKHG5 Charcot-Marie-Tooth disease C, recessive intermediate
Spinal muscular atrophy, distal, autosomal recessive, 4
PLOD1 Ehlers-Danlos syndrome type VI
POGZ Mental retardation, autosomal dominant 37 (White-Sutton syndrome)
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
PSEN2 Cardiomyopathy, dilated, 1V
Peripartum/pregnancy-associated cardiomyopathy
PTPN14 Choanal atresia and lymphedema
PTPRC Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
PTPRF Breasts and/or nipples, aplasia or hypoplasia of, 2
RD3 Leber congenital amaurosis 12
RFX5 Bare lymphocyte syndrome, type II
RHCE Rhesus blood group
RNASEL Prostate cancer, hereditary, 1
RPE65 Retinitis pigmentosa 20
Leber congenital amaurosis 2
RPL11 Diamond-Blackfan anemia 7
RYR2 Ventricular tachycardia, catecholaminergic polymorphic, 1
Arrhythmogenic right ventricular dysplasia 2
SDCCAG8 Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDHB Cowden-like syndrome
Paraganglioma and gastric stromal sarcoma
Gastrointestinal stromal tumor
Pheochromocytoma
Paragangliomas 4
SEMA4A Cone-rod dystrophy 10
Retinitis pigmentosa 35
SEPN1 Muscular dystrophy, rigid spine, 1
Myopathy, congenital, with fiber-type disproportion
SERPINC1 Antithrombin III deficiency
SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7
Erythrocyte lactate transporter defect
Monocarboxylate transporter 1 deficiency (AR)
SLC2A1 GLUT1 deficiency syndrome 1
GLUT1 deficiency syndrome 2
Epilepsy, idiopathic generalized, susceptibility to, 12
Stomatin-deficient cryohydrocytosis with neurologic defects
SLC41A1 Nephronophthisis-like ciliopathy
SPTA1 Spherocytosis, type 3
Pyropoikilocytosis , hereditary
Ellipsocytosis 2
ST3GAL3 Mental retardation, autosomal recessive 12
Epileptic encephalopathy, early infantile, 15
STIL Microcephaly, primary autosomal recessive, 7
SYT2 Myasthenic syndrome, congenital 7
TNNT2 Cardiomyopathy, familial restrictive, 3
Cardiomyopathy, dilated, 1D
Left ventricular noncompaction 6
Cardiomyopathy, familial hypertrophic, 2
TSHB Hypothyroidism, congenital, nongoitrous, 4
USH2A Usher syndrome, type 2A
VANGL2 Neural tube defects
ZBTB18 Mental retardation, autosomal dominant 22

Genes at HGMD

Summary

Number of Variants: 982
Number of Genes: 283

Export to: CSV

ABCA4

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 09pla02101_s1 genome 1 rs3112831
dbSNP Clinvar
94544234 532.0 T C PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.22085 0.22080 0.26065 0.63 0.00 None None None None None None ABCA4|0.440503373|18.63%
View 09pla02101_s1 genome 1 rs6657239
dbSNP Clinvar
94564483 281.22 C T PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.05331 0.05331 0.04644 0.04 0.05 None None None None None None ABCA4|0.440503373|18.63%
View 09pla02101_s1 genome 1 rs4847281
dbSNP Clinvar
94578548 1314.97 T C PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.98702 0.98700 0.01230 None None None None None None ABCA4|0.440503373|18.63%
View 09pla02101_s1 genome 1 rs1762114
dbSNP Clinvar
94471075 281.88 A G PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.76997 0.77000 0.22428 None None None None None None ABCA4|0.440503373|18.63%

ACTN2

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 09pla02101_s1 genome 1 rs1341863
dbSNP Clinvar
236883421 1830.18 C T PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.92073 0.92070 0.06228 None None None None None None ACTN2|0.55570405|13.49%
View 09pla02101_s1 genome 1 rs1341864
dbSNP Clinvar
236882303 1445.75 T C PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.99261 0.99260 0.00777 None None None None None None ACTN2|0.55570405|13.49%

ADAMTSL4

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 09pla02101_s1 genome 1 rs41317515
dbSNP Clinvar
150526044 836.87 G C PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.52836 0.52840 0.45295 0.61 0.00 None None None None None None ADAMTSL4|0.034322056|67.68%
View 09pla02101_s1 genome 1 rs10888382
dbSNP Clinvar
150531008 3783.39 T C PASS 1/1 150 SYNONYMOUS_CODING LOW None 0.81450 0.81450 0.13248 None None None None None None ADAMTSL4|0.034322056|67.68%
View 09pla02101_s1 genome 1 rs10749658
dbSNP Clinvar
150531170 3095.49 C T PASS 1/1 122 None None None 0.92153 0.92150 0.08404 None None None None None None ADAMTSL4|0.034322056|67.68%
View 09pla02101_s1 genome 1 rs10749657
dbSNP Clinvar
150531050 4633.33 G A PASS 1/1 208 SYNONYMOUS_CODING LOW None 0.87840 0.87840 0.15647 None None None None None None ADAMTSL4|0.034322056|67.68%

ADAR

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View 09pla02101_s1 genome 1 rs1802645
dbSNP Clinvar
154575040 4293.26 C T PASS 1/1 164 SYNONYMOUS_CODING LOW None 0.99701 0.99700 0.00285 None None None None None None ADAR|0.149816666|43.06%
View 09pla02101_s1 genome 1 . 154574422 231.29 T G LowQD;SB 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.63 0.00 None None None None None None ADAR|0.149816666|43.06%
View 09pla02101_s1 genome 1 rs1466731
dbSNP Clinvar
154574820 1825.75 T C PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.99621 0.99620 0.00431 0.28 0.00 None None None None None None ADAR|0.149816666|43.06%
View 09pla02101_s1 genome 1 rs2229857
dbSNP Clinvar
154573967 1211.51 T C PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.62260 0.62260 0.39213 0.67 0.00 None None None None None None ADAR|0.149816666|43.06%
View 09pla02101_s1 genome 1 . 154569625 27.3 T G LowGQX;LowQD;SB 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.22 0.00 None None None None None None ADAR|0.149816666|43.06%
View 09pla02101_s1 genome 1 rs1127309
dbSNP Clinvar
154561925 848.7 C T PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.28095 0.28100 0.29802 None None None None None None ADAR|0.149816666|43.06%

ADCK3

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 09pla02101_s1 genome 1 rs12593
dbSNP Clinvar
227172290 2686.12 C T PASS 1/1 115 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23862 0.23860 0.37367 None None None None None None ADCK3|0.102470418|50.69%
View 09pla02101_s1 genome 1 rs11549708
dbSNP Clinvar
227149203 624.26 G A PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.08067 0.08067 0.17687 None None None None None None ADCK3|0.102470418|50.69%
View 09pla02101_s1 genome 1 rs3738725
dbSNP Clinvar
227174210 1308.93 T C PASS 1/1 55 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%

ADCY10

Omim - GeneCards - NCBI
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View 09pla02101_s1 genome 1 rs203795
dbSNP Clinvar
167817639 2531.95 A G PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.82209 0.82210 0.22674 None None None None None None ADCY10|0.02878338|70.03%
View 09pla02101_s1 genome 1 rs2071921
dbSNP Clinvar
167825485 1517.88 T C PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.50459 0.50460 0.42042 0.11 0.00 None None None None None None ADCY10|0.02878338|70.03%
View 09pla02101_s1 genome 1 rs2071922
dbSNP Clinvar
167825606 647.33 A G PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.20827 0.20830 0.10618 None None None None None None ADCY10|0.02878338|70.03%
View 09pla02101_s1 genome 1 rs67878347
dbSNP Clinvar
167839578 675.96 G A PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.12560 0.12560 0.16116 None None None None None None ADCY10|0.02878338|70.03%
View 09pla02101_s1 genome 1 rs203849
dbSNP Clinvar
167849414 849.69 A G PASS 0/1 71 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49321 0.49320 0.46570 None None None None None None ADCY10|0.02878338|70.03%

ADORA1

Omim - GeneCards - NCBI
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View 09pla02101_s1 genome 1 rs2228079
dbSNP Clinvar
203098275 1600.25 T G PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.23363 0.23360 0.26349 None None None None None None ADORA1|0.36730339|22.93%

ADORA3

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 09pla02101_s1 genome 1 rs35511654
dbSNP Clinvar
112042787 1972.32 T G PASS 0/1 161 None None None 0.05950 0.05950 0.11003 0.00 0.90 None None None None None None ADORA3|0.017319131|75.65%
View 09pla02101_s1 genome 1 rs2229155
dbSNP Clinvar
112042632 3912.02 A G PASS 1/1 157 None None None 0.77356 0.77360 0.20998 None None None None None None ADORA3|0.017319131|75.65%

AGL

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 09pla02101_s1 genome 1 rs2230306
dbSNP Clinvar
100336361 2358.03 C T PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.76258 0.76260 0.23289 None None None None None None AGL|0.644094308|10.32%

AGRN

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 09pla02101_s1 genome 1 rs2465128
dbSNP Clinvar
981931 1206.3 A G PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.79772 0.79770 0.21978 None None None None None None None
View 09pla02101_s1 genome 1 rs9442391
dbSNP Clinvar
984302 1206.72 T C PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.54573 0.54570 0.45863 None None None None None None None
View 09pla02101_s1 genome 1 rs10267
dbSNP Clinvar
982994 2002.87 T C PASS 0/1 172 SYNONYMOUS_CODING LOW None 0.83586 0.83590 0.20883 None None None None None None None
View 09pla02101_s1 genome 1 rs4275402
dbSNP Clinvar
990280 4677.76 C T PASS 1/1 162 SYNONYMOUS_CODING LOW None 0.58526 0.58530 0.42085 None None None None None None None
View 09pla02101_s1 genome 1 rs144205055
dbSNP Clinvar
981243 1959.04 G A PASS 0/1 184 SYNONYMOUS_CODING LOW None 0.00023 None None None None None None None

AGT

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 09pla02101_s1 genome 1 rs7080
dbSNP Clinvar
230841687 841.15 T C PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.97264 0.97260 0.05913 None None None None None None AGT|0.061155796|59.54%
View 09pla02101_s1 genome 1 rs699
dbSNP Clinvar
230845794 3368.9 A G PASS 1/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.70507 0.70510 0.43834 1.00 0.00 None None None None None None AGT|0.061155796|59.54%

AKR7A3

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 09pla02101_s1 genome 1 rs1738025
dbSNP Clinvar
19609254 510.34 T C PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.83147 0.83150 0.20268 1.00 0.00 None None None None None None AKR7A3|0.013654573|78.1%
View 09pla02101_s1 genome 1 rs1738023
dbSNP Clinvar
19611241 1462.23 T C PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.80771 0.80770 0.22634 1.00 0.00 None None None None None None AKR7A3|0.013654573|78.1%
View 09pla02101_s1 genome 1 rs149649188
dbSNP Clinvar
19610562 990.07 G A PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00054 None None None None None None AKR7A3|0.013654573|78.1%
View 09pla02101_s1 genome 1 rs2231198
dbSNP Clinvar
19612477 1479.57 C T PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.46326 0.46330 0.36344 0.07 0.04 None None None None None None AKR7A3|0.013654573|78.1%

ALDH4A1

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 09pla02101_s1 genome 1 rs2230705
dbSNP Clinvar
19203997 1921.03 C G PASS 0/1 163 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%
View 09pla02101_s1 genome 1 rs2230706
dbSNP Clinvar
19202926 1441.3 T C PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.66014 0.66010 0.37865 None None None None None None ALDH4A1|0.121498662|47.22%
View 09pla02101_s1 genome 1 rs7550938
dbSNP Clinvar
19202917 1575.8 T C PASS 0/1 136 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%
View 09pla02101_s1 genome 1 rs2230707
dbSNP Clinvar
19202896 1349.11 G A PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.51597 0.51600 0.45471 None None None None None None ALDH4A1|0.121498662|47.22%
View 09pla02101_s1 genome 1 rs2230708
dbSNP Clinvar
19201956 1535.84 A G PASS 0/1 118 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%

ALG6

Omim - GeneCards - NCBI
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View 09pla02101_s1 genome 1 rs4630153
dbSNP Clinvar
63881552 1415.99 C T PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.83047 0.83050 0.26300 0.32 0.00 None None None None None None ALG6|0.211927647|35.38%

ALPL

Omim - GeneCards - NCBI
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View 09pla02101_s1 genome 1 rs1780316
dbSNP Clinvar
21889635 3575.86 T C PASS 1/1 143 SYNONYMOUS_CODING LOW None 0.92951 0.92950 0.07827 None None None None None None ALPL|0.999977593|0.11%
View 09pla02101_s1 genome 1 rs3200254
dbSNP Clinvar
21894735 777.98 T C LowGQ;LowGQX 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.26697 0.26700 0.15877 1.00 0.00 None None None None None None ALPL|0.999977593|0.11%
View 09pla02101_s1 genome 1 rs3200255
dbSNP Clinvar
21900171 3226.07 A G PASS 1/1 140 SYNONYMOUS_CODING LOW None 0.27157 0.27160 0.16231 None None None None None None ALPL|0.999977593|0.11%

ALX3

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 09pla02101_s1 genome 1 . 110613214 14.9 C A LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None STRIP1|0.468652926|17.23%,ALX3|0.187310594|38.14%

ARHGEF11

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 09pla02101_s1 genome 1 rs945508
dbSNP Clinvar
156907081 1246.49 T C PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.76238 0.76240 0.34969 1.00 0.00 None None None None None None ARHGEF11|0.107056542|49.78%
View 09pla02101_s1 genome 1 rs2275199
dbSNP Clinvar
156909695 1053.58 G A PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.19070 0.19070 0.16831 None None None None None None ARHGEF11|0.107056542|49.78%

ASPM

Omim - GeneCards - NCBI
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View 09pla02101_s1 genome 1 rs3762271
dbSNP Clinvar
197070442 5687.98 G T PASS 1/1 204 NON_SYNONYMOUS_CODING MODERATE None 0.21426 0.21430 0.32290 0.74 0.27 None None None None None None ASPM|0.161871432|41.31%
View 09pla02101_s1 genome 1 rs964201
dbSNP Clinvar
197070901 5050.23 A G PASS 1/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.99740 0.99740 0.00431 1.00 0.00 None None None None None None ASPM|0.161871432|41.31%
View 09pla02101_s1 genome 1 rs41310925
dbSNP Clinvar
197072420 6986.45 T C PASS 1/1 257 SYNONYMOUS_CODING LOW None 0.21306 0.21310 0.32134 None None None None None None ASPM|0.161871432|41.31%
View 09pla02101_s1 genome 1 rs6677082
dbSNP Clinvar
197112533 5163.02 G A PASS 1/1 184 SYNONYMOUS_CODING LOW None 0.75559 0.75560 0.26923 None None None None None None ASPM|0.161871432|41.31%
View 09pla02101_s1 genome 1 rs142537154
dbSNP Clinvar
197094290 554.79 C T PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00023 1.00 0.00 None None None None None None ASPM|0.161871432|41.31%
View 09pla02101_s1 genome 1 rs4915337
dbSNP Clinvar
197091537 3498.03 A T PASS 1/1 136 SYNONYMOUS_CODING LOW None 0.78255 0.78250 0.24527 None None None None None None ASPM|0.161871432|41.31%
View 09pla02101_s1 genome 1 rs1412640
dbSNP Clinvar
197070815 4384.58 T C PASS 1/1 164 SYNONYMOUS_CODING LOW None 0.81590 0.81590 0.21308 None None None None None None ASPM|0.161871432|41.31%
View 09pla02101_s1 genome 1 rs41308365
dbSNP Clinvar
197070707 4561.2 G A PASS 1/1 137 SYNONYMOUS_CODING LOW None 0.21426 0.21430 0.32172 None None None None None None ASPM|0.161871432|41.31%
View 09pla02101_s1 genome 1 rs41310927
dbSNP Clinvar
197070697 4008.56 T C PASS 1/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.21426 0.21430 0.32108 0.00 0.90 None None None None None None ASPM|0.161871432|41.31%
View 09pla02101_s1 genome 1 rs2878749
dbSNP Clinvar
197073932 1447.92 T C PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.21446 0.21450 0.32237 None None None None None None ASPM|0.161871432|41.31%

ATF6

Omim - GeneCards - NCBI
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View 09pla02101_s1 genome 1 rs2070151
dbSNP Clinvar
161748056 1046.08 C T PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.18990 0.18990 0.09603 None None None None None None ATF6|0.320298826|26.14%
View 09pla02101_s1 genome 1 rs9482
dbSNP Clinvar
161928327 1216.15 A G PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.55871 0.55870 0.35053 None None None None None None ATF6|0.320298826|26.14%
View 09pla02101_s1 genome 1 rs2070150
dbSNP Clinvar
161761276 1190.73 G C PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.15915 0.15910 0.06843 0.77 0.00 None None None None None None ATF6|0.320298826|26.14%
View 09pla02101_s1 genome 1 rs2271012
dbSNP Clinvar
161753841 910.48 G A PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.18690 0.18690 0.09273 None None None None None None ATF6|0.320298826|26.14%
View 09pla02101_s1 genome 1 rs1135983
dbSNP Clinvar
161761312 645.17 C T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.18690 0.18690 0.09273 0.81 0.01 None None None None None None ATF6|0.320298826|26.14%
View 09pla02101_s1 genome 1 rs2271013
dbSNP Clinvar
161753802 476.87 T C PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.15915 0.15910 0.06805 None None None None None None ATF6|0.320298826|26.14%

ATP13A2

Omim - GeneCards - NCBI
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View 09pla02101_s1 genome 1 rs3738815
dbSNP Clinvar
17314702 3321.23 C T PASS 1/1 137 SYNONYMOUS_CODING LOW None 0.29094 0.29090 0.17807 None None None None None None ATP13A2|0.211936486|35.38%

ATP1A2

Omim - GeneCards - NCBI
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View 09pla02101_s1 genome 1 rs17846715
dbSNP Clinvar
160105367 252.74 C T PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.06310 0.06310 0.08496 None None None None None None ATP1A2|0.330286807|25.47%

ATP2B4

Omim - GeneCards - NCBI
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View 09pla02101_s1 genome 1 rs2228445
dbSNP Clinvar
203667409 1010.02 T C PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.85982 0.85980 0.15516 None None None None None None ATP2B4|0.129216879|45.98%
View 09pla02101_s1 genome 1 rs1419114
dbSNP Clinvar
203652444 3448.6 A G PASS 1/1 140 SYNONYMOUS_CODING LOW None 0.85004 0.85000 0.17108 None None None None None None ATP2B4|0.129216879|45.98%

BCL10

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 09pla02101_s1 genome 1 rs11576939
dbSNP Clinvar
85742012 1397.59 G C PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.22824 0.22820 0.28679 None None None None None None BCL10|0.233643394|33.03%

C1QA

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 09pla02101_s1 genome 1 rs172378
dbSNP Clinvar
22965438 1565.92 A G PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.61641 0.61640 0.48797 None None None None None None C1QA|0.041784249|65.17%

C1QB

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 09pla02101_s1 genome 1 . 22987828 3.07 T C LowGQX;LowQD;SB 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None C1QB|0.029894938|69.46%

C4BPA

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 09pla02101_s1 genome 1 rs1126618
dbSNP Clinvar
207297680 1749.27 T C PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.85783 0.85780 0.13901 None None None None None None C4BPA|0.000996206|95.46%
View 09pla02101_s1 genome 1 rs4844573
dbSNP Clinvar
207304900 158.34 T C LowGQ;LowGQX 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.48982 0.48980 0.48408 1.00 0.00 None None None None None None C4BPA|0.000996206|95.46%

C8A

Omim - GeneCards - NCBI
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View 09pla02101_s1 genome 1 rs652785
dbSNP Clinvar
57340727 836.59 C A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.34365 0.34370 0.32093 0.67 0.01 None None None None None None C8A|0.019731908|74.34%

C8B

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 09pla02101_s1 genome 1 rs150022116
dbSNP Clinvar
57422472 1174.13 G A PASS 0/1 146 STOP_GAINED HIGH None None None None None None None C8B|0.032687385|68.29%
View 09pla02101_s1 genome 1 rs1013579
dbSNP Clinvar
57422484 1872.07 C T PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.98642 0.98640 0.02422 1.00 0.00 None None None None None None C8B|0.032687385|68.29%

CA6

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 09pla02101_s1 genome 1 rs2274333
dbSNP Clinvar
9017204 912.01 A G LowGQ;LowGQX 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.34385 0.34380 0.24981 0.05 0.59 None None None None None None CA6|0.001337936|93.66%
View 09pla02101_s1 genome 1 rs3737665
dbSNP Clinvar
9030964 2351.0 C T PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.28854 0.28850 0.19084 None None None None None None CA6|0.001337936|93.66%
View 09pla02101_s1 genome 1 rs3765964
dbSNP Clinvar
9034421 1412.14 G A PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.46006 0.46010 0.34841 0.19 0.00 None None None None None None CA6|0.001337936|93.66%
View 09pla02101_s1 genome 1 rs2274330
dbSNP Clinvar
9009470 1667.09 G C PASS 0/1 167 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26218 0.26220 0.23935 None None None None None None CA6|0.001337936|93.66%
View 09pla02101_s1 genome 1 rs2274329
dbSNP Clinvar
9009451 1810.14 G C PASS 0/1 166 NON_SYNONYMOUS_CODING MODERATE None 0.09465 0.09465 0.07012 0.00 1.00 None None None None None None CA6|0.001337936|93.66%
View 09pla02101_s1 genome 1 rs2274328
dbSNP Clinvar
9009444 2037.1 A C PASS 0/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.50140 0.50140 0.46886 1.00 0.00 None None None None None None CA6|0.001337936|93.66%

CACNA1E

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 09pla02101_s1 genome 1 rs704326
dbSNP Clinvar
181759657 981.23 G A PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.27636 0.27640 0.35974 0.76 0.00 None None None None None None CACNA1E|0.552106709|13.63%

CACNA1S

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 09pla02101_s1 genome 1 rs7415038
dbSNP Clinvar
201038687 1137.5 A G PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.29413 0.29410 0.47172 None None None None None None CACNA1S|0.323841456|25.88%
View 09pla02101_s1 genome 1 rs12742170
dbSNP Clinvar
201052312 397.88 A C PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.12720 0.12720 0.27464 None None None None None None CACNA1S|0.323841456|25.88%
View 09pla02101_s1 genome 1 rs9427714
dbSNP Clinvar
201047111 856.9 A G PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.12700 0.12700 0.27664 None None None None None None CACNA1S|0.323841456|25.88%
View 09pla02101_s1 genome 1 rs4915477
dbSNP Clinvar
201047075 632.27 A G PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.57109 0.57110 0.26396 None None None None None None CACNA1S|0.323841456|25.88%
View 09pla02101_s1 genome 1 rs12742169
dbSNP Clinvar
201052310 321.57 A T PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.12720 0.12720 0.27464 0.19 0.23 None None None None None None CACNA1S|0.323841456|25.88%
View 09pla02101_s1 genome 1 rs2296383
dbSNP Clinvar
201060865 1531.32 G A PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.30511 0.30510 0.32977 None None None None None None CACNA1S|0.323841456|25.88%

CAMTA1

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 09pla02101_s1 genome 1 rs41278952
dbSNP Clinvar
7797503 2312.68 C G PASS 0/1 197 NON_SYNONYMOUS_CODING MODERATE None 0.10044 0.10040 0.09957 0.58 0.06 None None None None None None CAMTA1|0.951338773|2.22%
View 09pla02101_s1 genome 1 rs3810982
dbSNP Clinvar
6947717 487.27 C T PASS 0/1 56 None None None 0.20827 0.20830 0.00 0.40 None None None None None None CAMTA1|0.951338773|2.22%

CASP9

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 09pla02101_s1 genome 1 rs1052571
dbSNP Clinvar
15850613 836.11 G A PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.58467 0.58470 0.36 0.01 None None None None None None CASP9|0.380237916|22.03%
View 09pla02101_s1 genome 1 rs4645983
dbSNP Clinvar
15850603 936.84 G A PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.23562 0.23560 0.25144 None None None None None None CASP9|0.380237916|22.03%
View 09pla02101_s1 genome 1 rs1132312
dbSNP Clinvar
15844615 986.55 A G PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.58486 0.58490 0.41250 None None None None None None CASP9|0.380237916|22.03%
View 09pla02101_s1 genome 1 rs1052576
dbSNP Clinvar
15832543 845.12 T C PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.58486 0.58490 0.41235 1.00 0.00 None None None None None None CASP9|0.380237916|22.03%

CASQ2

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 09pla02101_s1 genome 1 rs7413162
dbSNP Clinvar
116243877 1122.58 G A PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.42572 0.42570 0.38798 None None None None None None CASQ2|0.441097582|18.61%

CATSPER4

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 09pla02101_s1 genome 1 rs17163674
dbSNP Clinvar
26527863 1853.86 C T PASS 0/1 182 SYNONYMOUS_CODING LOW None 0.08986 0.08986 0.09819 None None None None None None CATSPER4|0.015621882|76.7%