rs916977, HERC2

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Eye Color
CUI: C0015396
Disease: Eye Color
31 1.000 0.080 15 28268218 intron variant T/C;G snv 0.800 1.000 2 2008 2013
Color of iris
CUI: C0474350
Disease: Color of iris
28 1.000 0.080 15 28268218 intron variant T/C;G snv 0.700 1.000 1 2008 2008
Hair Color
CUI: C0018498
Disease: Hair Color
312 1.000 0.080 15 28268218 intron variant T/C;G snv 0.700 1.000 1 2008 2008
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
CUI: C1856895
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
9 1.000 0.080 15 28268218 intron variant T/C;G snv 0.700 0
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
92 1.000 0.080 15 28268218 intron variant T/C;G snv 0.010 1.000 1 2017 2017