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
RS1183989693 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1183994410 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1183995627 F11 Health Risk Pathogenic —
RS1184002840 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1184006015 COL11A2 Health Risk Pathogenic —
RS1184012360 SPRED1 Health Risk Likely pathogenic Legius syndrome, Legius syndrome
RS1184012636 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1184015240 TCIRG1 Health Risk Pathogenic —
RS1184021143 SLC25A46 Health Risk Likely pathogenic Neuropathy, hereditary motor and sensory
RS11840224 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1184032259 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1184042209 HBB Health Risk Conflicting classifications of pathogenicity —
RS1184058017 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1184080545 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS1184082030 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1184088336 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1184095219 GCNT2 Health Risk Pathogenic Cataract 13 with adult I phenotype, Cataract 13 with adult I phenotype
RS1184169158 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1184213733 CNNM4 Health Risk Pathogenic —
RS1184226425 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1184226464 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1184248952 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS1184276258 MTO1 Health Risk Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1184282261 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1184301452 MCCC2 Health Risk Pathogenic —
RS1184309321 CDH23 Health Risk Pathogenic —
RS1184319306 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1184352382 ERCC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1184396932 LZTR1 Health Risk Pathogenic —
RS1184398243 CRYGS Health Risk Likely pathogenic Cataract 20 multiple types, Cataract 20 multiple types
RS1184398890 HEATR3 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 21
RS1184406839 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Deficiency of galactokinase
RS1184406908 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1184430122 LRP6 Health Risk Pathogenic Tooth agenesis, selective
RS1184440187 FGA Health Risk Pathogenic Familial dysfibrinogenemia, Familial dysfibrinogenemia
RS1184467860 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1184467972 STX11 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS1184501172 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1184523433 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1184529372 ANLN Health Risk Pathogenic Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8
RS1184544985 MYH9 Health Risk Pathogenic/Likely pathogenic MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS1184553647 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1184553729 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, TRIM32-related disorder
RS1184559866 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1184561035 PEX26 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS1184563885 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS1184586094 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1184593852 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1184598875 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1184603042 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1184604309 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1184619416 ERCC6L2 Health Risk Pathogenic —
RS1184623630 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1184635512 NR5A1 Health Risk Likely pathogenic See cases, See cases
RS1184637689 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS1184639006 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1184695718 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS1184706017 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1184716348 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1184724406 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1184729090 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1184770295 CD46 Health Risk Conflicting classifications of pathogenicity Familial Atypical Hemolytic-Uremic Syndrome, Atypical hemolytic-uremic syndrome
RS1184801355 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1184804915 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1184861455 CEP135 Health Risk Pathogenic/Likely pathogenic CEP135-related disorder, CEP135-related disorder
RS1184877278 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS1184883440 SLC45A2 Health Risk Pathogenic —
RS1184906056 QDPR Health Risk Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS1184908674 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1184911908 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1184921987 DSP Health Risk Pathogenic Cardiomyopathy, dilated
RS1184927944 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1184938651 CRYM Health Risk Conflicting classifications of pathogenicity —
RS1184946403 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1184952883 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1184981709 SCAMP5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCAMP5-related neurodevelopmental disorder with autistic features and seizures
RS1184981956 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1184984382 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS1184992634 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1185007661 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy 1
RS1185010700 EIF3F Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 67
RS1185026485 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1185034563 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS1185037584 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1185038602 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1185054167 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1185068065 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1185100306 SLC34A1 Health Risk Likely pathogenic —
RS1185117521 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1185120937 HMGCL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1185123354 ESCO2 Health Risk Likely pathogenic —
RS1185127836 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS1185151033 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1185165443 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1185165677 CLTC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 56
RS1185168725 CEP63 Health Risk Likely pathogenic —
RS1185183557 IFT122 Health Risk Pathogenic/Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS1185204988 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1185229314 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1185235703 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CDK13-related disorder
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