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
RS1566972371 TRIP4 Health Risk Pathogenic —
RS1566973583 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1566974586 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1566975090 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1566975163 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1566975448 DUOX2 Health Risk Likely pathogenic —
RS1566975668 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1566977567 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1566978577 DUOX2 Health Risk Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1566979450 COA8 Health Risk Pathogenic —
RS1566980722 COA8 Health Risk Pathogenic —
RS1566982116 IREB2 Health Risk Likely pathogenic Neurodegeneration, early-onset
RS1566983844 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1566984441 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1566984719 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1566984937 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1566988788 EIF2AK4 Health Risk Pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS1566989338 CDAN1 Health Risk Pathogenic —
RS1566991387 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1566992093 TCF12 Health Risk Likely pathogenic Coronal craniosynostosis, Coronal craniosynostosis
RS1566993126 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, See cases
RS1566993302 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1566996726 DYNC1H1 Health Risk Likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Charcot-Marie-Tooth disease axonal type 2O
RS1566997890 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1566999047 DYNC1H1 Health Risk Likely pathogenic —
RS1566999423 SMAD3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1566999458 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial aortopathy, Familial thoracic aortic aneurysm and aortic dissection
RS1566999601 SMAD3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1566999610 SMAD3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1566999621 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1567002059 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1567002115 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1567003613 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1567004102 TRPM1 Health Risk Pathogenic —
RS1567005489 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS1567005557 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2O
RS1567006266 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS1567010427 DYNC1H1 Health Risk Likely pathogenic —
RS1567012503 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1567013693 TRPM1 Health Risk Pathogenic —
RS1567014543 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1567017307 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS1567018763 DYNC1H1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1567019064 DYNC1H1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1567019327 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1567020949 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS1567021756 WDR73 Health Risk Likely pathogenic —
RS1567024512 CEP152 Health Risk Likely pathogenic Microcephaly 9, primary
RS1567027297 AAGAB Health Risk Pathogenic Palmoplantar keratoderma, punctate type 1A
RS1567027610 AAGAB Health Risk Pathogenic Palmoplantar keratoderma, punctate type 1A
RS1567028689 CEP152 Health Risk Likely pathogenic Microcephaly 9, primary
RS1567035597 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1567035745 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1567036566 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1567036579 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1567036793 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1567037561 AAGAB Health Risk Pathogenic Palmoplantar keratoderma, punctate type 1A
RS1567038003 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1567040469 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1567040910 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1567043467 CCDC88C Health Risk Pathogenic Hydrocephalus, nonsyndromic
RS1567045130 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1567045235 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1567045531 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1567047642 CIB2 Health Risk Pathogenic Usher syndrome type 1J, Usher syndrome type 1J
RS1567049981 CIB2 Health Risk Pathogenic —
RS1567050773 CYP11A1 Health Risk Likely pathogenic —
RS1567052156 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1567052178 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1567052324 BLM Health Risk Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1567053134 CYP11A1 Health Risk Pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS1567053170 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1567057019 KIF7 Health Risk Likely pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS1567060070 KIF7 Health Risk Likely pathogenic —
RS1567060305 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1567062835 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1567063125 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1567065650 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1567066891 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1567067864 KIF7 Health Risk Pathogenic/Likely pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS1567068388 CIB1 Health Risk risk factor Epidermodysplasia verruciformis, susceptibility to
RS1567069906 CIB1 Health Risk Pathogenic Epidermodysplasia verruciformis, susceptibility to
RS1567075176 PLIN1 Health Risk Pathogenic PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy
RS1567075667 PLIN1 Health Risk Pathogenic PLIN1-related familial partial lipodystrophy, PLIN1-related familial partial lipodystrophy
RS1567084743 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1567089714 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1567092020 SMAD6 Health Risk Pathogenic Aortic valve disease 1, Aortic valve disease 1
RS1567092048 SMAD6 Health Risk Pathogenic/Likely pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1567092071 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Aortic valve disease 2
RS1567093598 ALPK3 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic 27
RS1567093760 ALPK3 Health Risk Pathogenic —
RS1567094168 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiomyopathy
RS1567094183 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1567094729 HERC1 Health Risk Likely pathogenic —
RS1567095153 CLN6 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS1567095321 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS1567106381 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS1567106459 CHSY1 Health Risk Pathogenic Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
RS1567108397 GPHN Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS1567112402 CHSY1 Health Risk Pathogenic Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
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