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
RS886044867 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS886044869 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS886044875 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS886044878 GLA Health Risk Likely pathogenic Fabry disease, cardiac variant
RS886044879 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS886044880 FKBP10 Health Risk Pathogenic —
RS886044881 ATP7A Health Risk Pathogenic —
RS886044882 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS886044887 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS886044891 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS886044894 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS886044896 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS886044897 RP2 Health Risk Pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS886044898 ATRX Health Risk Pathogenic/Likely pathogenic —
RS886044899 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS886044900 GLA Health Risk Pathogenic —
RS886044901 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1
RS886044905 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS886044906 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS886044909 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS886044910 LOC126861897;MHRT;MYH7 Health Risk Likely pathogenic Distal muscle weakness, Distal muscle weakness
RS886044911 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal carcinoma, Hereditary nonpolyposis colorectal neoplasms
RS886044912 ALPL Health Risk Conflicting classifications of pathogenicity Decreased circulating alkaline phosphatase activity, Decreased circulating alkaline phosphatase activity
RS886044913 ASTN2;TRIM32 Health Risk Pathogenic Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
RS886044914 SMCHD1 Health Risk Likely pathogenic Scapulohumeral muscular dystrophy, Scapulohumeral muscular dystrophy
RS886044915 ANO5 Health Risk Likely pathogenic Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
RS886044916 DMD Health Risk Likely pathogenic Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
RS886044918 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS886044919 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS886044922 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS886044964 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS886044966 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS886044976 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS886044977 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Neuroblastoma
RS886045115 NGF Health Risk Conflicting classifications of pathogenicity Congenital sensory neuropathy with selective loss of small myelinated fibers, Congenital sensory neuropathy with selective loss of small myelinated fibers
RS886045197 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS886045205 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, PHGDH deficiency
RS886045206 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, PHGDH deficiency
RS886045207 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS886045239 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
RS886045251 GJA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS886045338 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS886045341 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS886045351 PKLR Health Risk Pathogenic/Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase hyperactivity
RS886045363 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2B1, Congenital muscular dystrophy due to LMNA mutation
RS886045365 LMNA Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Dilated cardiomyopathy 1A
RS886045415 ATP1A2 Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS886045513 TBX19 Health Risk Conflicting classifications of pathogenicity Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS886045543 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS886045547 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS886045551 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS886045580 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS886045594 SERPINC1 Health Risk Conflicting classifications of pathogenicity Hereditary antithrombin deficiency, Inborn genetic diseases
RS886045625 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa gravis of Herlitz
RS886045629 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS886045654 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS886045677 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS886045682 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS886045687 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS886045712 CDC73 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism 1, Parathyroid carcinoma
RS886045714 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hyperparathyroidism 2 with jaw tumors
RS886045751 CFHR5 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
RS886045759 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS886045770 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS886045833 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS886045834 REN Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2
RS886045868 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS886045870 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Amelogenesis imperfecta type 1A
RS886045923 FLVCR1 Health Risk Conflicting classifications of pathogenicity Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS886045928 FLVCR1 Health Risk Conflicting classifications of pathogenicity Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS886045971 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS886046018 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 2, Martsolf syndrome
RS886046031 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS886046035 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS886046036 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS886046038 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS886046042 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS886046043 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS886046069 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, COQ8A-related disorder
RS886046083 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Inborn genetic diseases
RS886046110 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS886046149 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS886046172 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS886046174 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS886046176 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS886046206 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS886046217 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS886046221 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS886046262 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS886046265 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS886046269 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS886046270 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS886046274 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS886046277 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS886046279 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS886046281 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS886046309 RPL11 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 7, Diamond-Blackfan anemia
RS886046312 HMGCL Health Risk Conflicting classifications of pathogenicity Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS886046313 HMGCL Health Risk Conflicting classifications of pathogenicity Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS886046318 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
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