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
RS112635185 DST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112636835 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS112637707 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS112638127 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1126422 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS112642323 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112644647 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112645512 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112650390 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS11265047 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS112652327 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome
RS112655848 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan syndrome
RS1126559 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1126568 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5
RS112657170 SLC10A2 Health Risk Conflicting classifications of pathogenicity SLC10A2-related disorder, SLC10A2-related disorder
RS112659914 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS112660586 NDUFA10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS112660651 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS112661131 SERPINA1 Health Risk Pathogenic/Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS112661514 FBXO11 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS112666115 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS112666310 POLN Health Risk Conflicting classifications of pathogenicity —
RS112667596 PLP1 Health Risk Likely pathogenic —
RS112667801 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS112668572 TBC1D7 Health Risk Conflicting classifications of pathogenicity —
RS112673831 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS112675807 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Lung cancer
RS112677283 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS112680790 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1126809 TYR Health Risk Conflicting classifications of pathogenicity; other Oculocutaneous albinism type 1B, Temperature-sensitive oculocutaneous albinism type 1
RS112682210 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS112687336 NDUFS7 Health Risk Likely pathogenic —
RS112687345 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS112687420 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS112688556 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS112693024 GMPPA Health Risk Conflicting classifications of pathogenicity Alacrima, achalasia
RS112694849 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS112700048 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS112711075 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
RS112711398 MLPH Health Risk Conflicting classifications of pathogenicity MLPH-related disorder, Inborn genetic diseases
RS112714025 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS112716438 DSG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112720067 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS112723282 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS112725798 CATSPER1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, Spermatogenic failure 7
RS112726878 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS112727682 SMC1A Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, History of neurodevelopmental disorder
RS112728248 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112728974 CORO1A Health Risk Likely pathogenic Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
RS112730430 PPP1R13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1127312 DEAF1 Health Risk Conflicting classifications of pathogenicity —
RS112731263 C3 Health Risk Likely pathogenic —
RS112732503 GNB3 Health Risk Conflicting classifications of pathogenicity —
RS112735431 RNF213 Health Risk Conflicting classifications of pathogenicity Moyamoya disease 2, Inborn genetic diseases
RS112737041 GAD1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, GAD1-related disorder
RS112738974 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Primary familial hypertrophic cardiomyopathy
RS112739451 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS112739986 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS112740455 PLOD3 Health Risk Likely pathogenic —
RS112740973 KIAA0753 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112743475 TMC6 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases
RS112744561 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS112745231 STARD9 Health Risk Conflicting classifications of pathogenicity —
RS112747515 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS112749193 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Kidney disorder
RS112751577 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS112752342 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS11275235 FANCA Health Risk Conflicting classifications of pathogenicity —
RS112753643 CLCN7 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS112754953 EIF4A2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
RS112762 CD44 Health Risk association Nephrolithiasis, calcium oxalate
RS112762655 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS112764594 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS112766203 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS112767703 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS112774699 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS112775194 IGLL1 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 2, autosomal recessive
RS112775908 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS112775979 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS112780195 C3 Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome with C3 anomaly
RS112787589 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS112788477 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS112789274 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS112793292 SCO2 Health Risk Conflicting classifications of pathogenicity Cardioencephalomyopathy, fatal infantile
RS112794616 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS112795301 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
RS112795811 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS112801202 SLC6A3 Health Risk Conflicting classifications of pathogenicity Parkinsonism-dystonia, infantile
RS112805221 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, ADGRG1-related disorder
RS112805604 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS112807920 LONP1 Health Risk Conflicting classifications of pathogenicity LONP1-related disorder, LONP1-related disorder
RS112809381 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Juvenile polyposis syndrome
RS112809590 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112811136 RBP4 Health Risk Pathogenic Progressive retinal dystrophy due to retinol transport defect, Progressive retinal dystrophy due to retinol transport defect
RS112812685 TPP1 Health Risk Pathogenic —
RS112814811 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS112817175 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, COL6A3-related phenotype
RS112822256 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS112823079 BDP1 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome, Acute myeloid leukemia
RS112824871 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
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