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
RS2465341923 CAD Health Risk Pathogenic —
RS2465342847 CAD Health Risk Likely pathogenic —
RS2465343084 CAD Health Risk Likely pathogenic —
RS2465343198 CAD Health Risk Pathogenic —
RS2465345007 CAD Health Risk Likely pathogenic —
RS2465346727 CAD Health Risk Likely pathogenic —
RS2465352690 OTOF Health Risk Pathogenic —
RS2465353501 OTOF Health Risk Pathogenic —
RS2465353637 OTOF Health Risk Likely pathogenic —
RS2465357289 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS2465357914 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS2465358553 CAD Health Risk Likely pathogenic —
RS2465358719 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465359187 APOB Health Risk Pathogenic —
RS2465359220 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS2465361028 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS2465361141 CAD Health Risk Pathogenic —
RS2465361618 SOS1 Health Risk Likely pathogenic RASopathy, RASopathy
RS2465362511 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465362877 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS2465363561 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS2465364633 APOB Health Risk Likely pathogenic Hypobetalipoproteinemia, Hypobetalipoproteinemia
RS2465365058 APOB Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, autosomal dominant
RS2465366773 CAD Health Risk Pathogenic —
RS2465367028 CAD Health Risk Pathogenic —
RS2465367500 CAD Health Risk Pathogenic —
RS2465367576 APOB Health Risk Pathogenic —
RS2465367585 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465368117 APOB Health Risk Likely pathogenic Hypercholesterolemia, autosomal dominant
RS2465368367 APOB Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2465368920 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465369830 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS2465369854 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465370364 CAD Health Risk Likely pathogenic —
RS2465370629 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465370870 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465371279 CAD Health Risk Pathogenic —
RS2465371313 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS2465371960 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS2465374342 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465374413 APOB Health Risk Pathogenic/Likely pathogenic —
RS2465374686 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465374787 APOB Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2465376540 PKDCC Health Risk Pathogenic Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features
RS2465380748 APOB Health Risk Likely pathogenic Hypobetalipoproteinemia, Hypobetalipoproteinemia
RS2465381618 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS2465381819 DRC1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2465381898 DRC1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2465386425 OTOF Health Risk Likely pathogenic —
RS2465388342 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS2465391637 APOB Health Risk Likely pathogenic Familial hypobetalipoproteinemia 1, Familial hypobetalipoproteinemia 1
RS2465394635 XDH Health Risk Likely pathogenic Hereditary xanthinuria type 1, Hereditary xanthinuria type 1
RS2465397269 APOB Health Risk Likely pathogenic APOB-related disorder, APOB-related disorder
RS2465399013 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS2465399337 DRC1 Health Risk Likely pathogenic Spermatogenic failure 80, Spermatogenic failure 80
RS2465401546 XDH Health Risk Likely pathogenic Hereditary xanthinuria type 1, Hereditary xanthinuria type 1
RS2465407485 XDH Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS2465413229 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465413489 APOB Health Risk Pathogenic Early-onset coronary artery disease, Early-onset coronary artery disease
RS2465418029 DNMT3A Health Risk Likely pathogenic —
RS2465419984 DRC1 Health Risk Likely pathogenic Spermatogenic failure 80, Spermatogenic failure 80
RS2465421714 APOB Health Risk Likely pathogenic Hypercholesterolemia, autosomal dominant
RS2465425936 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS2465426269 APOB Health Risk Likely pathogenic Hypercholesterolemia, autosomal dominant
RS2465426745 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2465432479 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS2465432583 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS2465432680 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Familial hypobetalipoproteinemia 1
RS2465432746 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465435723 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS2465438688 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Familial hypobetalipoproteinemia 1
RS2465438693 APOB Health Risk Likely pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465441256 AGBL5 Health Risk Likely pathogenic —
RS2465441803 APOB Health Risk Likely pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465441808 AGBL5 Health Risk Pathogenic —
RS2465443167 EPCAM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2465443187 EPCAM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2465443330 EPCAM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2465444919 XDH Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS2465455020 EPCAM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2465455403 EPCAM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2465457194 EPCAM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2465459066 APOB Health Risk Likely pathogenic Hypercholesterolemia, autosomal dominant
RS2465463570 APOB Health Risk Likely pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS2465465952 AGBL5 Health Risk Pathogenic —
RS2465469627 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS2465472183 AGBL5 Health Risk Pathogenic —
RS2465472339 AGBL5 Health Risk Likely pathogenic Retinitis pigmentosa 75, Retinitis pigmentosa 75
RS2465473118 OTOF Health Risk Pathogenic Auditory neuropathy, Auditory neuropathy
RS2465473183 AGBL5 Health Risk Likely pathogenic —
RS2465479726 AGBL5 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2465481804 DNMT3A Health Risk Likely pathogenic DNMT3A-related disorder, DNMT3A-related disorder
RS2465486157 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS2465486170 OTOF Health Risk Pathogenic —
RS2465488757 EIF2B4 Health Risk Pathogenic —
RS2465490325 OTOF Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS2465492004 OTOF Health Risk Pathogenic —
RS2465492372 OTOF Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS2465492447 OTOF Health Risk Pathogenic —
RS2465492591 AGBL5 Health Risk Pathogenic —
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