Annotation Detail
Information
- Associated Genes
- PCSK1
- Associated Variants
-
rs271939
PCSK1 p.Ser690Thr (p.S690T) ( ENST00000311106.8, ENST00000508626.5 )
PCSK1 p.Gln665Glu (p.Q665E) ( ENST00000311106.8, ENST00000508626.5 )
PCSK1 c.286-843T>C ( ENST00000311106.8, ENST00000508626.5 )
rs271939
PCSK1 p.Ser690Thr (p.S690T) ( ENST00000311106.8, ENST00000508626.5 )
PCSK1 p.Gln665Glu (p.Q665E) ( ENST00000311106.8, ENST00000508626.5 )
PCSK1 c.286-843T>C ( ENST00000311106.8, ENST00000508626.5 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Single nucleotide polymorphisms (SNPs) in PCSK1, namely, rs6234, rs6235, and rs271939 have been linked to obesity in European population; and rs3811951 has also been connected to type 2 diabetes and obesity parameters in Chinese population.
- Pubmed
- 24964673
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0974594943365758
- Year of publication
- 2014
Drugs