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
RS1317103929 CHD2 Health Risk Likely pathogenic —
RS1317123493 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1317129577 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1317145066 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1317181118 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1317204420 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1317208073 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1317214046 ABCG8 Health Risk Pathogenic Sitosterolemia 1, Sitosterolemia 1
RS1317221906 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Medulloblastoma
RS1317230624 PTS Health Risk Pathogenic/Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1317243760 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1317275240 CFP Health Risk Likely pathogenic —
RS1317318638 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS1317332155 CPE Health Risk Pathogenic Blakemore-Durmaz-Vasileiou (BDV) syndrome, BDV syndrome
RS1317340252 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1317345069 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1317373402 DENND5A Health Risk Pathogenic —
RS1317374545 SKIC3 Health Risk Likely pathogenic —
RS1317396512 ABCC8 Health Risk Pathogenic —
RS1317409403 LIG4 Health Risk Pathogenic/Likely pathogenic DNA ligase IV deficiency, Multiple myeloma
RS1317431984 COL7A1 Health Risk Likely pathogenic —
RS1317447669 SKIC3 Health Risk Pathogenic —
RS1317505466 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1317507392 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1317514162 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1317517756 SRD5A3 Health Risk Likely pathogenic —
RS1317526744 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS1317528532 GFM1 Health Risk Pathogenic —
RS1317532064 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1317576992 STX11 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS1317590341 PLD3 Health Risk Pathogenic Spinocerebellar ataxia 46, Spinocerebellar ataxia 46
RS1317593957 GATA1 Health Risk Conflicting classifications of pathogenicity GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS1317595421 PAX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 7
RS1317598292 CHD7 Health Risk Conflicting classifications of pathogenicity See cases, CHARGE syndrome
RS1317610566 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1317614761 STAG2 Health Risk Pathogenic Holoprosencephaly 13, X-linked
RS1317619286 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1317622700 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1317637377 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS1317648011 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS1317656688 USP53 Health Risk Likely pathogenic Cholestasis, Cholestasis
RS1317662938 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1317670560 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS1317695590 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1317702489 CPLANE1 Health Risk Pathogenic —
RS1317712293 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1317740666 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1317742736 PCSK9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1317756653 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1317757501 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1317757765 ZCCHC8 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related
RS1317765862 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1317776692 INF2 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS1317793581 CPT2 Health Risk Pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1317808124 FOXRED1 Health Risk Likely pathogenic —
RS1317810142 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1317832573 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS1317834655 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1317855790 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1317871521 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1317880376 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1317891493 CEP135 Health Risk Pathogenic —
RS1317894002 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1317904463 SPTAN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1317950691 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1317951509 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS1317953100 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1317957783 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1317977313 F9 Health Risk Pathogenic/Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease
RS1317994194 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
RS1318017328 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1318029350 HSPG2 Health Risk Pathogenic/Likely pathogenic Schwartz-Jampel syndrome type 1, Lethal Kniest-like syndrome
RS1318037698 FGF12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1318050831 HSD17B3 Health Risk Pathogenic Disorder of sexual differentiation, Disorder of sexual differentiation
RS1318058212 CBY1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1318070848 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1318084629 NDUFAF8 Health Risk Pathogenic Mitochondrial disease, Mitochondrial complex I deficiency
RS1318088507 KRT6A Health Risk Pathogenic —
RS1318105962 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1318118188 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1318155896 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1318177330 SCP2 Health Risk Likely pathogenic —
RS1318196714 ITGB4 Health Risk Pathogenic —
RS1318199256 KCNV2 Health Risk Pathogenic —
RS1318205250 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome
RS1318210119 HBA1 Health Risk Likely pathogenic —
RS1318210394 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1318223723 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1318249328 ATP9A Health Risk Pathogenic Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities
RS1318256630 SPTBN2 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
RS1318266542 ACADS Health Risk Pathogenic ACADS-related disorder, ACADS-related disorder
RS1318268067 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1318274503 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1318284690 SPECC1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1318316375 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS1318320106 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS1318325355 GLI2 Health Risk Conflicting classifications of pathogenicity Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS1318325737 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1318351016 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1318353774 CACNA1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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