rs12913832, HERC2

N. diseases: 15
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 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.800 1.000 4 2010 2013
Hair Color
CUI: C0018498
Disease: Hair Color
312 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.800 1.000 4 2008 2018
Suntan
CUI: C0406208
Disease: Suntan
94 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 3 2013 2018
Skin Pigmentation
CUI: C0037290
Disease: Skin Pigmentation
72 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 2 2015 2018
Asthma
CUI: C0004096
Disease: Asthma
1536 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 1 2015 2015
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 1 2018 2018
melanoma
CUI: C0025202
Disease: melanoma
515 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 1 2011 2011
Regular astigmatism - corneal
CUI: C0339682
Disease: Regular astigmatism - corneal
28 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 1 2018 2018
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
CUI: C1856895
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
9 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 0
Benign melanocytic nevus
CUI: C1456781
Disease: Benign melanocytic nevus
20 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.010 1.000 1 2014 2014
Central heterochromia
CUI: C4021567
Disease: Central heterochromia
1 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.010 1.000 1 2016 2016
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
33 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.010 1.000 1 2014 2014
Nevus
CUI: C0027960
Disease: Nevus
43 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.010 1.000 1 2014 2014
Pigmented lesions
CUI: C1402291
Disease: Pigmented lesions
3 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.010 1.000 1 2018 2018
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
92 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.010 1.000 1 2017 2017