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.
Abnormality of metabolism/homeostasis
5 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 0
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE
2 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 0
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
24 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 0
Choroidal Neovascularization
CUI: C0600518
Disease: Choroidal Neovascularization
3 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 0
Elevated hepatic transaminase
CUI: C1848701
Disease: Elevated hepatic transaminase
9 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 0
Foveal hypoplasia (finding)
CUI: C2673946
Disease: Foveal hypoplasia (finding)
4 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 0
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
2 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 0
SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYES
1 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 0
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
13 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 0
Slow decrease in visual acuity
CUI: C1853141
Disease: Slow decrease in visual acuity
3 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 0
Albinism
CUI: C0001916
Disease: Albinism
27 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.710 1.000 1 2013 2013
Skin Pigmentation
CUI: C0037290
Disease: Skin Pigmentation
72 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 1.000 1 2018 2018
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
92 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 1.000 1 2016 2016
Vitiligo
CUI: C0042900
Disease: Vitiligo
249 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 1.000 1 2016 2016
Albinism, Ocular
CUI: C0078917
Disease: Albinism, Ocular
10 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 2009 2009
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
2 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 1997 1997
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
14 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 1997 1997
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 2011 2011
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
38 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 2011 2011
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
109 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 1.000 2 2016 2019
Basal cell carcinoma
CUI: C0007117
Disease: Basal cell carcinoma
109 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 1.000 2 2016 2019
Basal Cell Neoplasm
CUI: C0206710
Disease: Basal Cell Neoplasm
109 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 1.000 2 2016 2019
Suntan
CUI: C0406208
Disease: Suntan
94 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 1.000 2 2013 2018
Autosomal recessive ocular albinism
CUI: C0268503
Disease: Autosomal recessive ocular albinism
4 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.020 1.000 2 2008 2009
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.020 1.000 2 2008 2011