rs121913492, GNAQ

N. diseases: 11
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.
Uveal melanoma
CUI: C0220633
Disease: Uveal melanoma
22 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.750 1.000 6 2014 2019
melanoma
CUI: C0025202
Disease: melanoma
515 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.740 1.000 12 1989 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.070 0.857 7 2012 2019
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.010 1 2018 2018
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.010 1.000 1 2019 2019
Hemangioma of choroid
CUI: C0346390
Disease: Hemangioma of choroid
2 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.010 1.000 1 2019 2019
Melanocytoma
CUI: C0334431
Disease: Melanocytoma
3 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
Monosomy
CUI: C0026499
Disease: Monosomy
11 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.010 1.000 1 2019 2019
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.010 1.000 1 2019 2019
Nevus of choroid
CUI: C0346392
Disease: Nevus of choroid
2 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.010 1.000 1 2019 2019
Senile angioma
CUI: C0343082
Disease: Senile angioma
2 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.010 1.000 1 2019 2019