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
RS2504744456 DUOX2 Health Risk Pathogenic —
RS2504745479 DUOX2 Health Risk Likely pathogenic —
RS2504750956 DUOX2 Health Risk Pathogenic —
RS2504751266 DUOX2 Health Risk Pathogenic —
RS2504751716 DUOX2 Health Risk Likely pathogenic —
RS2504753203 DUOX2 Health Risk Likely pathogenic —
RS2504753330 DUOX2 Health Risk Pathogenic —
RS2504755054 DUOX2 Health Risk Pathogenic —
RS2504756664 DUOX2 Health Risk Pathogenic —
RS2504758932 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS2504760831 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS2504760939 DUOX2 Health Risk Likely pathogenic —
RS2504761251 DUOX2 Health Risk Pathogenic —
RS2504764413 DUOX2 Health Risk Likely pathogenic —
RS2504764459 DUOX2 Health Risk Pathogenic —
RS2504764814 DUOX2 Health Risk Pathogenic —
RS2504765004 DUOX2 Health Risk Pathogenic —
RS2504765090 DUOX2 Health Risk Pathogenic —
RS2504765197 PHF21A Health Risk Likely pathogenic Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
RS2504766330 DUOX2 Health Risk Pathogenic —
RS2504766612 DUOX2 Health Risk Pathogenic —
RS2504768975 DUOX2 Health Risk Pathogenic —
RS2504772664 DUOX2 Health Risk Pathogenic —
RS2504772830 DUOX2 Health Risk Pathogenic —
RS2504775143 DUOX2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Thyroid dyshormonogenesis 6
RS2504775350 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS2504775604 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS2504776767 SERPINA1 Health Risk Pathogenic/Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS2504776911 SERPINA1 Health Risk Pathogenic/Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS2504777565 DUOX2 Health Risk Pathogenic —
RS2504777646 DUOX2 Health Risk Pathogenic —
RS2504778008 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS2504778973 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS2504780325 DUOX2 Health Risk Pathogenic —
RS2504780722 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS2504781328 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS2504784138 SERPINA1 Health Risk Pathogenic/Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS2504785531 DUOX2 Health Risk Pathogenic —
RS2504785818 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS2504785893 DUOX2 Health Risk Pathogenic —
RS2504788999 DUOX2 Health Risk Pathogenic —
RS2504789080 DUOX2 Health Risk Likely pathogenic —
RS2504790843 DUOX2 Health Risk Pathogenic —
RS2504791090 DUOX2 Health Risk Pathogenic —
RS2504791118 DUOX2 Health Risk Pathogenic —
RS2504796812 AP4E1 Health Risk Likely pathogenic Hereditary spastic paraplegia 51, Hereditary spastic paraplegia 51
RS2504803353 DUOXA2 Health Risk Pathogenic Thyroglobulin synthesis defect, Thyroglobulin synthesis defect
RS2504810072 DUOXA2 Health Risk Pathogenic Thyroglobulin synthesis defect, Thyroglobulin synthesis defect
RS2504825600 CEP152 Health Risk Pathogenic —
RS2504834746 ALDH1A2 Health Risk Pathogenic Diaphragmatic hernia 4, with cardiovascular defects
RS2504837607 ALDH1A2 Health Risk Pathogenic Diaphragmatic hernia 4, with cardiovascular defects
RS2504862939 CEP152 Health Risk Pathogenic —
RS2504863002 CEP152 Health Risk Pathogenic —
RS2504864133 CEP152 Health Risk Likely pathogenic —
RS2504879322 CEP152 Health Risk Pathogenic —
RS2504879533 CEP152 Health Risk Pathogenic —
RS2504880509 CEP152 Health Risk Pathogenic —
RS2504896841 CEP152 Health Risk Pathogenic —
RS2504897331 CEP152 Health Risk Pathogenic —
RS2504897519 CEP152 Health Risk Pathogenic —
RS2504917048 CEP152 Health Risk Likely pathogenic —
RS2504930584 CEP152 Health Risk Pathogenic —
RS2504932216 CEP152 Health Risk Pathogenic —
RS2504936679 CEP152 Health Risk Likely pathogenic —
RS2504945051 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504945525 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504945945 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504948607 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504948671 VSX2 Health Risk Likely pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504956615 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504973070 VSX2 Health Risk Likely pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504973144 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS2504973201 VSX2 Health Risk Likely pathogenic —
RS2504981401 MEIS2 Health Risk Likely pathogenic Cardiac malformation, cleft lip/palate
RS2504987137 RFX7 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 71
RS2504987146 RFX7 Health Risk Pathogenic/Likely pathogenic See cases, Intellectual developmental disorder
RS2504987254 RFX7 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 71
RS2504988812 RFX7 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2504989046 RFX7 Health Risk Likely pathogenic —
RS2504989200 RFX7 Health Risk Likely pathogenic RFX7-related disorder, RFX7-related disorder
RS2504999773 SMAD3 Health Risk Pathogenic/Likely pathogenic Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2504999997 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505000100 SMAD3 Health Risk Conflicting classifications of pathogenicity Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505020328 UBR7 Health Risk Likely pathogenic Li-Campeau syndrome, Li-Campeau syndrome
RS2505026251 SLC12A1 Health Risk Pathogenic —
RS2505026270 SLC12A1 Health Risk Pathogenic —
RS2505026310 SLC12A1 Health Risk Likely pathogenic See cases, See cases
RS2505026929 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS2505027099 SLC12A1 Health Risk Likely pathogenic —
RS2505034727 SLC12A1 Health Risk Pathogenic —
RS2505034797 SLC12A1 Health Risk Likely pathogenic —
RS2505053163 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS2505058115 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS2505080056 SLC12A1 Health Risk Pathogenic —
RS2505085696 SLC12A1 Health Risk Pathogenic —
RS2505087341 SLC12A1 Health Risk Likely pathogenic —
RS2505087651 SLC12A1 Health Risk Pathogenic —
RS2505087791 SLC12A1 Health Risk Likely pathogenic Bartter syndrome, Bartter disease type 1
RS2505087861 SLC12A1 Health Risk Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS2505093961 SLC12A1 Health Risk Pathogenic —
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