SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS794727870 SLC2A1 Health Risk Likely pathogenic Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2
RS794727872 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS794727876 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS794727879 PHF6 Health Risk Conflicting classifications of pathogenicity Borjeson-Forssman-Lehmann syndrome, Thyroid cancer
RS794727881 UPF3B Health Risk Pathogenic Syndromic X-linked intellectual disability 14, UPF3B-associated intellectual disability
RS794727884 DOK7 Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS794727886 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS794727888 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS794727890 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727893 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS794727895 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS794727896 IDUA Health Risk Conflicting classifications of pathogenicity Hurler syndrome, Mucopolysaccharidosis type 1
RS794727897 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS794727898 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS794727902 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS794727903 ABCA4 Health Risk Pathogenic Retinitis pigmentosa 19, Age related macular degeneration 2
RS794727906 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS794727907 GRM6 Health Risk Conflicting classifications of pathogenicity —
RS794727908 GBA1 Health Risk Likely pathogenic Gaucher disease, 7 conditions
RS794727909 KLHL7 Health Risk Conflicting classifications of pathogenicity KLHL7-related disorder, KLHL7-related disorder
RS794727916 MMP2 Health Risk Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis
RS794727920 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS794727922 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS794727923 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS794727924 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS794727925 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS794727928 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS794727930 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS794727931 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS794727935 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 7
RS794727941 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS794727942 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS794727944 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS794727945 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS794727946 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myopathy with fiber type disproportion
RS794727950 CNGA1 Health Risk Conflicting classifications of pathogenicity —
RS794727952 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS794727953 JAG1 Health Risk Pathogenic —
RS794727955 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS794727957 HLCS Health Risk Pathogenic —
RS794727959 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS794727962 GABRA1 Health Risk Conflicting classifications of pathogenicity —
RS794727964 IQCB1 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Senior-Loken syndrome 5
RS794727966 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS794727968 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS794727970 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS794727972 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS794727976 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS794727977 ARID1B Health Risk Pathogenic Autism spectrum disorder, Coffin-Siris syndrome 1
RS794727979 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS794727980 CRB1 Health Risk Pathogenic —
RS794727981 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS794727982 RYR1 Health Risk Pathogenic —
RS794727984 RYR1 Health Risk Pathogenic —
RS794727985 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS794727986 SYNE1 Health Risk Pathogenic Inborn genetic diseases, Autosomal recessive ataxia
RS794727987 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS794727991 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS794727993 COPA Health Risk Pathogenic/Likely pathogenic Autoimmune interstitial lung disease-arthritis syndrome, See cases
RS794727994 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
RS794727995 COPA Health Risk Pathogenic Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
RS794727996 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7
RS794727997 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7
RS794727998 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7
RS794727999 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7
RS794728000 RNF216 Health Risk Pathogenic Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
RS794728002 PCARE Health Risk Pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa
RS794728003 MIR2861 Health Risk association BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15
RS794728004 SLC52A3 Health Risk Likely pathogenic Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
RS794728005 SH3PXD2B Health Risk Pathogenic Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS794728006 SH3PXD2B Health Risk Pathogenic Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS794728008 PEPD Health Risk Pathogenic Prolidase deficiency, Prolidase deficiency
RS794728010 CYB5A Health Risk Pathogenic Methemoglobinemia type 4, Methemoglobinemia type 4
RS794728011 CYB5R3 Health Risk Pathogenic METHEMOGLOBINEMIA, TYPE II
RS794728012 CYB5R3 Health Risk Pathogenic METHEMOGLOBINEMIA, TYPE II
RS794728013 CYB5R3 Health Risk Pathogenic/Likely pathogenic METHEMOGLOBINEMIA, TYPE II
RS794728015 SOX18 Health Risk Pathogenic/Likely pathogenic Hypotrichosis-lymphedema-telangiectasia syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome
RS794728016 MET Health Risk Pathogenic Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
RS794728018 ATM Health Risk Conflicting classifications of pathogenicity Breast cancer, early-onset
RS794728021 ACTA2 Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 6
RS794728025 ACTA2 Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 6
RS794728028 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS794728029 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS794728031 ACTA2 Health Risk Likely pathogenic —
RS794728038 COL3A1 Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Ehlers-Danlos syndrome
RS794728040 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS794728043 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS794728044 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS794728045 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS794728049 COL3A1 Health Risk Likely pathogenic —
RS794728050 COL3A1 Health Risk Pathogenic —
RS794728051 COL3A1 Health Risk Likely pathogenic —
RS794728054 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS794728055 COL3A1 Health Risk Likely pathogenic —
RS794728057 COL3A1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS794728059 COL3A1 Health Risk Pathogenic —
RS794728060 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS794728061 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS794728063 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS794728068 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
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