Annotation Detail
Information
- Associated Genes
- AGXT
- Associated Variants
-
CDKN1A p.Ser31Arg (p.S31R)
(
ENST00000244741.10,
ENST00000373711.3,
ENST00000405375.5,
ENST00000448526.6,
ENST00000615513.4 )
CDKN1A p.Ser31= (p.S31=) ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 )
CDKN1A c.445+16C>G ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 )
CDKN1A c.445+16C>T ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 )
CDKN1A c.*20C>T ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 )
CDKN1A p.Ser31Arg (p.S31R) ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 )
CDKN1A p.Ser31= (p.S31=) ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 )
CDKN1A c.445+16C>G ( ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4, ENST00000244741.10 )
CDKN1A c.445+16C>T ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 )
CDKN1A c.*20C>T ( ENST00000244741.10, ENST00000373711.3, ENST00000405375.5, ENST00000448526.6, ENST00000615513.4 ) - Associated Disease
- Malignant tumor of cervix
- Source Database
- DisGeNET
- Description
- The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs1059234) also provided a protective effect in development of cervical cancer in this population.
- Pubmed
- 23231583
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs