SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS397514643 WNT7A Health Risk Pathogenic Schinzel phocomelia syndrome, Schinzel phocomelia syndrome
RS397514644 AKT1 Health Risk Pathogenic Cowden syndrome 6, Cowden syndrome 6
RS397514645 AKT1 Health Risk Pathogenic Cowden syndrome 6, Cowden syndrome 6
RS397514646 EIF2B5 Health Risk Pathogenic Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5
RS397514647 EIF2B3 Health Risk Pathogenic Leukoencephalopathy with vanishing white matter 3, Leukoencephalopathy with vanishing white matter 3
RS397514648 EIF2B2 Health Risk Pathogenic/Likely pathogenic Abnormality of the nervous system, Leukoencephalopathy with vanishing white matter 2
RS397514649 DLD Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Lactic acidosis
RS397514650 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS397514651 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS397514652 ALDH1A3 Health Risk Pathogenic Isolated microphthalmia 8, Isolated microphthalmia 8
RS397514653 ALDH1A3 Health Risk Pathogenic Isolated microphthalmia 8, Isolated microphthalmia 8
RS397514654 HK1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4G, Hemolytic anemia due to hexokinase deficiency
RS397514655 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS397514656 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS397514657 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS397514659 POLG2 Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
RS397514660 CTC1 Health Risk Pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS397514661 EPCAM Health Risk Pathogenic Congenital diarrhea 5 with tufting enteropathy, Gastric cancer
RS397514662 COX15 Health Risk Conflicting classifications of pathogenicity Cardioencephalomyopathy, fatal infantile
RS397514663 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS397514664 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS397514665 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS397514666 WNT7A Health Risk Pathogenic Schinzel phocomelia syndrome, Schinzel phocomelia syndrome
RS397514667 CD27 Health Risk Pathogenic Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
RS397514668 GDF5 Health Risk Pathogenic/Likely pathogenic Type A2 brachydactyly, Grebe syndrome
RS397514669 UBIAD1 Health Risk Likely pathogenic Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
RS397514670 SYNGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 5
RS397514671 STIM1 Health Risk Pathogenic Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome
RS397514672 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS397514673 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Inborn genetic diseases
RS397514674 FKBP10 Health Risk Pathogenic/Likely pathogenic Bruck syndrome 1, Osteogenesis imperfecta type 11
RS397514675 STIM1 Health Risk Likely pathogenic Myopathy, tubular aggregate
RS397514676 STIM1 Health Risk Pathogenic Myopathy, tubular aggregate
RS397514677 STIM1 Health Risk Pathogenic/Likely pathogenic Myopathy, tubular aggregate
RS397514678 JAM3 Health Risk Likely pathogenic Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
RS397514679 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS397514681 SAG Health Risk Pathogenic Oguchi disease, Oguchi disease-1
RS397514682 SAG Health Risk Pathogenic Oguchi disease, Retinitis pigmentosa 47
RS397514683 EFEMP2 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS397514684 MLH1 Health Risk Likely pathogenic Mismatch repair cancer syndrome 1, Hereditary cancer-predisposing syndrome
RS397514685 IL21R Health Risk Pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS397514686 CARD11 Health Risk Pathogenic Severe combined immunodeficiency due to CARD11 deficiency, Severe combined immunodeficiency due to CARD11 deficiency
RS397514687 AGTR1 Health Risk Likely pathogenic Renal tubular dysgenesis, Essential hypertension
RS397514688 ACE Health Risk Pathogenic/Likely pathogenic Renal tubular dysgenesis, Abnormality of prenatal development or birth
RS397514689 ACE Health Risk Pathogenic Renal tubular dysgenesis, Microvascular complications of diabetes
RS397514690 REN Health Risk Pathogenic Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2
RS397514691 REN Health Risk Pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS397514692 NLRP1 Health Risk Pathogenic Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
RS397514693 CSNK1D Health Risk Pathogenic Advanced sleep phase syndrome 2, Advanced sleep phase syndrome 2
RS397514694 PRKN Health Risk Pathogenic Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS397514695 RXYLT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS397514696 RXYLT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS397514697 STAMBP Health Risk Pathogenic Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS397514698 GNAQ Health Risk Pathogenic Capillary malformation, Sturge-Weber syndrome
RS397514700 ANTXR1 Health Risk Pathogenic/Likely pathogenic GAPO syndrome, GAPO syndrome
RS397514701 ANTXR1 Health Risk Pathogenic GAPO syndrome, GAPO syndrome
RS397514702 WNT1 Health Risk risk factor OSTEOPOROSIS, EARLY-ONSET
RS397514703 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS397514705 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS397514706 CHST14 Health Risk Pathogenic Ehlers-Danlos syndrome, musculocontractural type 1
RS397514707 FIG4 Health Risk Conflicting classifications of pathogenicity Yunis-Varon syndrome, Amyotrophic lateral sclerosis
RS397514708 GATM Health Risk Pathogenic Arginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1
RS397514709 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS397514710 IRF8 Health Risk Pathogenic Immunodeficiency 32B, Immunodeficiency 32B
RS397514711 IRF8 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
RS397514712 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS397514713 TBC1D24 Health Risk Pathogenic Developmental and epileptic encephalopathy, 16
RS397514714 TBC1D24 Health Risk Pathogenic Developmental and epileptic encephalopathy, 16
RS397514716 SMAD9 Health Risk Pathogenic Pulmonary hypertension, primary
RS397514717 B3GALT6 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia with joint laxity, type 1
RS397514718 B3GALT6 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia with joint laxity, type 1
RS397514719 B3GALT6 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia with joint laxity, type 1
RS397514720 B3GALT6 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia with joint laxity, type 1
RS397514721 B3GALT6 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, spondylodysplastic type
RS397514723 B3GALT6 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia with joint laxity, type 1
RS397514724 B3GALT6 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia with joint laxity, type 1
RS397514725 GDF6 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 17, Klippel-Feil syndrome 1
RS397514726 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS397514727 COQ2 Health Risk risk factor Multiple system atrophy, Multiple system atrophy
RS397514728 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS397514729 CASR Health Risk Pathogenic Bartter syndrome with hypocalcemia, Bartter syndrome with hypocalcemia
RS397514730 ALAS2 Health Risk Pathogenic X-linked erythropoietic protoporphyria, X-linked erythropoietic protoporphyria
RS397514731 CTSF Health Risk Pathogenic Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13
RS397514732 CTSF Health Risk Pathogenic Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13
RS397514733 CTSF Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis
RS397514734 GJC2 Health Risk Pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS397514735 DNM2 Health Risk Conflicting classifications of pathogenicity Fetal akinesia-cerebral and retinal hemorrhage syndrome, Charcot-Marie-Tooth disease dominant intermediate B
RS397514736 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Gnathodiaphyseal dysplasia
RS397514737 GABRG2 Health Risk Pathogenic Generalized epilepsy with febrile seizures plus 3, Self-limited epilepsy with centrotemporal spikes
RS397514738 SCN8A Health Risk Pathogenic Developmental and epileptic encephalopathy, 13
RS397514739 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS397514740 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS397514741 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS397514742 PRDM16 Health Risk Pathogenic Left ventricular noncompaction 8, Left ventricular noncompaction cardiomyopathy
RS397514745 KARS1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 89, Nonsyndromic genetic hearing loss
RS397514746 KARS1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 89, Autosomal recessive nonsyndromic hearing loss 89
RS397514747 DDR2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS397514749 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Inborn genetic diseases
RS397514750 VLDLR Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS397514751 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, dilated
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