Annotation Detail
Information
- Associated Genes
- NFYC
- Associated Variants
-
NC_000006.12:g.31815431A>C
HSPA1A c.-27G>C ( ENST00000375651.7, ENST00000608703.1 )
HSPA1A c.-27G>T ( ENST00000375651.7, ENST00000608703.1 )
HSPA1A p.Gln351= (p.Q351=) ( ENST00000375651.7, ENST00000608703.1 )
NC_000006.12:g.31815431A>C
HSPA1A c.-27G>C ( ENST00000375651.7, ENST00000608703.1 )
HSPA1A c.-27G>T ( ENST00000375651.7, ENST00000608703.1 )
HSPA1A p.Gln351= (p.Q351=) ( ENST00000375651.7, ENST00000608703.1 ) - Associated Disease
- High altitude pulmonary edema
- Source Database
- DisGeNET
- Description
- Haplotypes Hap4 (G-C-A, in order of rs1061581, rs1043618 and rs1008438) and Hap5 (G-G-A) had an 86% reduced risk (P=0.0009) against and Hap7 (A-C-C) had a 2.43-fold increased risk for HAPE.
- Pubmed
- 19351530
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2009
Drugs