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
RS201951252 TTN Health Risk Conflicting classifications of pathogenicity —
RS201951316 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS201951824 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, See cases
RS201951918 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS201952240 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS201952503 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS201952723 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Finnish type amyloidosis
RS201953338 IFT74 Health Risk Likely pathogenic IFT74-related disorder, Acute myeloid leukemia
RS201953356 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS201953557 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS201953584 PKLR Health Risk Pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase hyperactivity
RS201953670 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS201953675 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS201953758 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS201954161 SMARCC2 Health Risk Conflicting classifications of pathogenicity SMARCC2-related disorder, Coffin-Siris syndrome 8
RS201954181 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS201954387 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS201954421 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS2019544779 AHDC1 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS201954533 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS201954546 CCBE1 Health Risk Pathogenic Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS201954720 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201955039 VPS45 Health Risk Conflicting classifications of pathogenicity Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
RS201955081 FOXE3 Health Risk Conflicting classifications of pathogenicity Congenital primary aphakia, Anterior segment dysgenesis
RS201955205 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS201955278 CASR Health Risk Conflicting classifications of pathogenicity Familial hypoparathyroidism, Autosomal dominant hypocalcemia 1
RS201955505 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS201955628 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS201955990 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS201956060 ARHGEF17 Health Risk Conflicting classifications of pathogenicity —
RS201956073 KRT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201956265 RBM5 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS201956379 CYP17A1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS201956469 TMEM260 Health Risk Pathogenic/Likely pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS201956601 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS201956727 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS201956851 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS201956860 HR Health Risk Conflicting classifications of pathogenicity Atrichia with papular lesions, Alopecia universalis congenita
RS201956926 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS201957233 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS201957426 LRP4 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome
RS201957445 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS201958172 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Infertility disorder
RS201958183 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS201958469 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201958512 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS201958741 GBE1 Health Risk Pathogenic/Likely pathogenic Adult polyglucosan body neuropathy, Glycogen storage disease IV
RS201958805 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS201959036 SC5D Health Risk Conflicting classifications of pathogenicity Lathosterolosis, Lathosterolosis
RS201959477 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS201959936 GFAP Health Risk Conflicting classifications of pathogenicity —
RS201959970 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS201960323 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2019606024 L3MBTL1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS201960644 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS201960718 TENM4 Health Risk Conflicting classifications of pathogenicity TENM4-related disorder, TENM4-related disorder
RS201960869 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS201960945 DNAH9 Health Risk Pathogenic —
RS201961184 CFH Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Inborn genetic diseases
RS201961261 SLC25A11 Health Risk Conflicting classifications of pathogenicity —
RS201961347 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS201961477 MYT1L Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 39
RS201961765 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS201961771 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS201961789 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinal dystrophy
RS201961945 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia 1
RS201962241 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS201962257 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201962457 DDOST Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type Ir, DDOST-related disorder
RS201962592 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, See cases
RS201962649 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS201962738 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS201963018 NDUFA2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS201963032 PARN Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 6
RS201963060 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS201963254 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS201963260 MLYCD Health Risk Likely pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS201963507 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201963508 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS201963516 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS201963528 KDM5A Health Risk Conflicting classifications of pathogenicity —
RS201963596 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS201963605 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS201964194 CLCN7 Health Risk Conflicting classifications of pathogenicity —
RS201964221 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS201964421 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS201964644 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS201964660 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS201965033 AMER1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201965676 PRDM5 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS201965800 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201965984 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS201966022 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS201966169 AFG3L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia type 28
RS201966320 CPT2 Health Risk Likely pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS201966419 CAV1 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS201966711 SNX27 Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS201966792 IFT43 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Short-rib thoracic dysplasia 18 with polydactyly
RS201966956 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS201967064 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, DYNC2H1-related disorder
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