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
RS2485022126 AHI1 Health Risk Likely pathogenic AHI1-related disorder, AHI1-related disorder
RS2485026344 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485026493 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485026524 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2485026665 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485026683 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2485026699 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485026765 CFTR Health Risk Likely pathogenic Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1
RS2485026839 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485027155 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485027177 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485027257 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485028062 EPHB4 Health Risk Likely pathogenic EPHB4-related disorder, EPHB4-related disorder
RS2485028164 EPHB4 Health Risk Pathogenic —
RS2485028395 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2485028492 EPHB4 Health Risk Likely pathogenic —
RS2485028603 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2485028623 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2485028634 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2485028768 EPHB4 Health Risk Pathogenic —
RS2485030309 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485030335 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485030408 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2485030412 CFTR;CFTR-AS1 Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2485030489 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485030497 CFTR Health Risk Likely pathogenic Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1
RS2485031011 AUTS2 Health Risk Conflicting classifications of pathogenicity —
RS2485031310 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS2485035566 EPHB4 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2485035644 EPHB4 Health Risk Pathogenic —
RS2485036149 EPHB4 Health Risk Pathogenic —
RS2485037560 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS2485037567 EPHB4 Health Risk Likely pathogenic —
RS2485038099 EPHB4 Health Risk Pathogenic —
RS2485044899 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS2485044907 EPHB4 Health Risk Likely pathogenic EPHB4-related disorder, EPHB4-related disorder
RS2485045872 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485045880 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485045971 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2485046140 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485046175 EPHB4 Health Risk Pathogenic —
RS2485046318 CFTR Health Risk Likely pathogenic Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1
RS2485046325 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485046547 CFTR Health Risk Likely pathogenic Cystic fibrosis, CFTR-related disorder
RS2485049009 EPHB4 Health Risk Pathogenic —
RS2485049740 EPHB4 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS2485050014 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2485050114 EPHB4 Health Risk Pathogenic —
RS2485051580 CAMK2B Health Risk Conflicting classifications of pathogenicity —
RS2485055925 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS2485059948 RARS2 Health Risk Pathogenic —
RS2485060165 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2485060437 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2485061154 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2485061850 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2485064649 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2485065290 CFTR Health Risk Pathogenic/Likely pathogenic Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis
RS2485065411 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS2485065477 CFTR Health Risk Likely pathogenic Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1
RS2485065495 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2485065803 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2485065899 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS2485065974 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, CFTR-related disorder
RS2485065991 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS2485071633 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485071653 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485071851 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485072020 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485072704 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485073088 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485073277 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485073340 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2485073388 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2485073468 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2485074365 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485074560 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2485074960 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485074976 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2485075215 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485075357 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS2485075555 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485075571 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485075660 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485075691 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485076250 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2485076903 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS2485076951 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2485077068 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485077084 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2485077112 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485077222 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485077223 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485077226 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2485077370 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2485077539 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS2485077616 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS2485077697 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS2485077709 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS2485077774 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS2485077890 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
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