Annotation Detail
Information
- Associated Genes
- SLC45A2
- Associated Variants
-
SLC45A2 p.Leu374Phe (p.L374F)
(
ENST00000296589.9,
ENST00000382102.7,
ENST00000509381.1 )
SLC45A2 c.889-1064A>G ( ENST00000296589.9, ENST00000382102.7, ENST00000509381.1 )
SLC45A2 c.889-4350G>T ( ENST00000296589.9, ENST00000382102.7, ENST00000509381.1 )
SLC45A2 p.Leu374Phe (p.L374F) ( ENST00000296589.9, ENST00000382102.7, ENST00000509381.1 )
SLC45A2 c.889-1064A>G ( ENST00000296589.9, ENST00000382102.7, ENST00000509381.1 )
SLC45A2 c.889-4350G>T ( ENST00000296589.9, ENST00000382102.7, ENST00000509381.1 ) - Associated Disease
- SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
- Source Database
- DisGeNET
- Description
- Three single nucleotide polymorphisms (rs28777, rs35391, and rs16891982) in the MATP gene (SLC45A2) exhibited the strongest crude association with risk, but this was attenuated to approximately the same effect size as that of a MC1R red hair color allele by controlling for ancestry of cases and controls.
- Pubmed
- 19710684
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2010
Drugs