SLC4A2, solute carrier family 4 member 2, 6522

N. diseases: 35; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2069443
rs2069443
Entrez Id: 1020;6522
Gene Symbol: CDK5;SLC4A2
CDK5;SLC4A2
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2069443
rs2069443
Entrez Id: 1020;6522
Gene Symbol: CDK5;SLC4A2
CDK5;SLC4A2
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.010 GeneticVariation BEFREE In addition, the CTLA4 rs231777 SNP and haplotype 3 (ATGG) was significantly associated with anti-gp210 antibody production, while SLC4A2 haplotype 4 (rs2069443 A, rs2303933 G, rs2303937 A, rs2303941 T; AGAT) and haplotype 3 (AAGC) were significantly associated with PBC susceptibility and anti-centromere antibody production, respectively. 21594562 2011
dbSNP: rs2303933
rs2303933
Entrez Id: 6522
Gene Symbol: SLC4A2
SLC4A2
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.010 GeneticVariation BEFREE In addition, the CTLA4 rs231777 SNP and haplotype 3 (ATGG) was significantly associated with anti-gp210 antibody production, while SLC4A2 haplotype 4 (rs2069443 A, rs2303933 G, rs2303937 A, rs2303941 T; AGAT) and haplotype 3 (AAGC) were significantly associated with PBC susceptibility and anti-centromere antibody production, respectively. 21594562 2011
dbSNP: rs2303937
rs2303937
Entrez Id: 6522
Gene Symbol: SLC4A2
SLC4A2
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.010 GeneticVariation BEFREE In addition, the CTLA4 rs231777 SNP and haplotype 3 (ATGG) was significantly associated with anti-gp210 antibody production, while SLC4A2 haplotype 4 (rs2069443 A, rs2303933 G, rs2303937 A, rs2303941 T; AGAT) and haplotype 3 (AAGC) were significantly associated with PBC susceptibility and anti-centromere antibody production, respectively. 21594562 2011
dbSNP: rs2303941
rs2303941
Entrez Id: 6522;10922
Gene Symbol: SLC4A2;FASTK
SLC4A2;FASTK
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.010 GeneticVariation BEFREE In addition, the CTLA4 rs231777 SNP and haplotype 3 (ATGG) was significantly associated with anti-gp210 antibody production, while SLC4A2 haplotype 4 (rs2069443 A, rs2303933 G, rs2303937 A, rs2303941 T; AGAT) and haplotype 3 (AAGC) were significantly associated with PBC susceptibility and anti-centromere antibody production, respectively. 21594562 2011
dbSNP: rs3793336
rs3793336
Entrez Id: 6522
Gene Symbol: SLC4A2
SLC4A2
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.010 GeneticVariation BEFREE No associations with disease or liver transplantation were detected, but two variants, rs2303929 and rs3793336, were associated with negativity for antimitochondrial antibodies among the PBC patients. 19491853 2009
dbSNP: rs2069442
rs2069442
Entrez Id: 1020;6522
Gene Symbol: CDK5;SLC4A2
CDK5;SLC4A2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE In our analysis, the haplotype tagged by the G allele of SNP rs2069442 was significantly associated with AD (p = 0.05). 18350355 2008