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
RS150814290 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS150815925 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS150817714 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS150818164 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS150819225 TERT Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Dyskeratosis congenita
RS150819707 NODAL Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS150819742 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS150821066 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Inborn genetic diseases
RS150821225 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS150821281 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS150822759 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS150822845 PLIN1 Health Risk Likely pathogenic PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy
RS150823040 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS150823391 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150825310 IFNAR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 45, Immunodeficiency 45
RS150825710 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS150825781 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, ALMS1-related disorder
RS150828164 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Multiple myeloma
RS150828914 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS150829904 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS150830931 FECH Health Risk Conflicting classifications of pathogenicity —
RS150832314 ACOX2 Health Risk Conflicting classifications of pathogenicity Congenital bile acid synthesis defect 6, ACOX2-related disorder
RS150832878 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS150833046 GDF5 Health Risk Conflicting classifications of pathogenicity Grebe syndrome, Brachydactyly
RS150834054 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS150834671 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS150834672 DCHS1 Health Risk Conflicting classifications of pathogenicity DCHS1-related disorder, DCHS1-related disorder
RS150836510 MME Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia 43, Spinocerebellar ataxia 43
RS150837465 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS150838488 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS150840308 WFS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Wolfram syndrome 1
RS150840874 KANK1 Health Risk Conflicting classifications of pathogenicity Cerebral palsy, spastic quadriplegic
RS150840924 LMNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hutchinson-Gilford syndrome
RS150841255 GAD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS150841256 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS150841275 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS150841323 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS150841396 PEX3 Health Risk Likely pathogenic Peroxisome biogenesis disorder 10A (Zellweger), Peroxisome biogenesis disorder 10A (Zellweger)
RS150841760 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS150842067 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS150843177 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS150843941 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS150844105 TPRN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150844949 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS150844967 TUFM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150844985 SLC38A8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SLC38A8-related disorder
RS150844992 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS150846882 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS150847466 RASA2 Health Risk Conflicting classifications of pathogenicity RASA2-related disorder, RASA2-related disorder
RS150847674 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS150848976 OTUD6B Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies, seizures
RS150849018 LAMA1 Health Risk Conflicting classifications of pathogenicity —
RS150849326 DYM Health Risk Conflicting classifications of pathogenicity DYM-related disorder, DYM-related disorder
RS150850005 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS150850103 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS150851309 CD2AP Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 3, susceptibility to
RS150851401 SLC2A2 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Type 2 diabetes mellitus
RS150852085 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS150852382 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS150852779 CASP2 Health Risk Conflicting classifications of pathogenicity —
RS150854910 TF Health Risk Conflicting classifications of pathogenicity Atransferrinemia, Atransferrinemia
RS150854966 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS150855173 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS150855426 ATN1 Health Risk Conflicting classifications of pathogenicity —
RS150855952 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS150856064 RANGRF Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS150857132 CRYGD Health Risk Conflicting classifications of pathogenicity High myopia, Aculeiform cataract
RS150857620 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS150858928 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150859301 CFAP418 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 16, Retinitis pigmentosa
RS150859374 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS150859573 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS150859618 LAMC3 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, Inborn genetic diseases
RS150860491 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS150860532 STRA6 Health Risk Conflicting classifications of pathogenicity Matthew-Wood syndrome, Matthew-Wood syndrome
RS150860808 ATP8B1 Health Risk Conflicting classifications of pathogenicity ATP8B1-related disorder, Progressive familial intrahepatic cholestasis type 1
RS150860855 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA5-related disorder
RS150861266 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS150861658 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS150861748 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS150862618 SAMD9 Health Risk Conflicting classifications of pathogenicity SAMD9-related disorder, SAMD9-related disorder
RS150862707 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS150863050 FSHR Health Risk Conflicting classifications of pathogenicity Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome
RS150863068 VARS2 Health Risk Conflicting classifications of pathogenicity —
RS150863093 SLC2A1 Health Risk Conflicting classifications of pathogenicity Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2
RS150863675 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS150864071 NEU1 Health Risk Conflicting classifications of pathogenicity Sialidosis type 2, Sialidosis type 2
RS150864996 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, SLC39A4-related disorder
RS150865566 FGD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150866176 IGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Silver-Russell syndrome 3
RS150867327 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS150867836 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS150868783 TNC Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 56, TNC-related disorder
RS150868941 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS150869428 FERMT3 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 3, Inborn genetic diseases
RS150869744 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia 1, Autosomal dominant hypocalcemia 1
RS150870419 CCT5 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy with spastic paraplegia, CCT5-related disorder
RS150870424 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS150870505 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150870922 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
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