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
RS1057522831 TTN Health Risk Likely pathogenic —
RS1057522832 ALAS2 Health Risk Likely pathogenic —
RS1057522835 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1057522840 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS1057522861 BCS1L Health Risk Likely pathogenic —
RS1057522868 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, STK11-related disorder
RS1057522870 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS1057522886 ATP1A3 Health Risk Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS1057522892 FBLN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057522902 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1057522904 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1057522908 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS1057522911 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS1057522914 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1057522921 KCNH2 Health Risk Likely pathogenic —
RS1057522923 KCNT1 Health Risk Likely pathogenic —
RS1057522931 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS1057522933 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057522934 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057522944 TGFB3 Health Risk Likely pathogenic —
RS1057522948 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1057522963 ALAS2 Health Risk Conflicting classifications of pathogenicity —
RS1057522974 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1057522978 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS1057522979 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Ovarian cancer
RS1057522982 STXBP1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1057522990 KCNE1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 5
RS1057523007 DNM1L Health Risk Likely pathogenic —
RS1057523018 PDHA1 Health Risk Likely pathogenic —
RS1057523023 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057523027 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1057523038 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia
RS1057523045 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1057523068 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS1057523087 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057523095 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS1057523116 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Spastic ataxia 2
RS1057523128 LARS1 Health Risk Likely pathogenic —
RS1057523129 LARS1 Health Risk Likely pathogenic —
RS1057523130 CALM1 Health Risk Likely pathogenic —
RS1057523132 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1057523142 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057523153 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1057523157 SETD2 Health Risk Pathogenic/Likely pathogenic Luscan-Lumish syndrome, Corpus callosum
RS1057523165 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1057523175 POLE Health Risk Pathogenic —
RS1057523197 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1057523212 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057523214 ARHGEF10 Health Risk Conflicting classifications of pathogenicity Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity
RS1057523216 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057523223 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1057523242 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1057523250 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS1057523269 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1057523274 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS1057523275 BMP2 Health Risk Pathogenic/Likely pathogenic Short stature, facial dysmorphism
RS1057523295 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1057523306 CPLANE1 Health Risk Likely pathogenic —
RS1057523324 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS1057523325 COL4A1 Health Risk Pathogenic/Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS1057523326 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1057523338 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1057523344 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1057523345 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1057523346 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, FARS2-related disorder
RS1057523347 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1057523350 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057523354 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS1057523361 KCNJ10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome
RS1057523368 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1057523381 STXBP1 Health Risk Likely pathogenic Infantile epilepsy syndrome, Infantile epilepsy syndrome
RS1057523383 COL6A2 Health Risk Conflicting classifications of pathogenicity —
RS1057523385 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057523389 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057523393 SCN5A Health Risk Likely pathogenic Brugada syndrome 1, Long QT syndrome 3
RS1057523400 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS1057523406 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1057523431 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1057523452 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1057523460 TTN Health Risk Pathogenic —
RS1057523464 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1057523474 CALM3 Health Risk Likely pathogenic —
RS1057523477 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1057523493 MAP2K2 Health Risk Conflicting classifications of pathogenicity —
RS1057523495 ATP8B1 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS1057523496 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1057523502 TTN Health Risk Likely pathogenic —
RS1057523503 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1057523504 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057523509 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1057523515 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1057523533 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1057523547 ALS2 Health Risk Likely pathogenic —
RS1057523550 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1057523553 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS1057523554 PIGA Health Risk Likely pathogenic —
RS1057523555 NEB Health Risk Conflicting classifications of pathogenicity —
RS1057523564 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1057523573 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS1057523590 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
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