Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		0.880 1.000 8 2013 2019
dbSNP: rs121913492
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.750 1.000 5 2014 2019
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.740 0.800 4 2014 2018
dbSNP: rs121913492
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.740 1.000 4 1989 2018
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.730 1.000 3 2016 2019
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.720 1.000 2 2014 2017
dbSNP: rs121913492
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 0.857 7 2012 2019
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 0.750 4 2014 2019
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.030 1.000 3 2012 2018
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.020 1.000 2 2014 2016
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		0.020 1.000 2 2014 2017
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.010 1.000 1 2019 2019
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 < 0.001 1 2018 2018
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0346392
Disease: Nevus of choroid
Nevus of choroid 		0.010 1.000 1 2019 2019
dbSNP: rs121913492
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 < 0.001 1 2018 2018
dbSNP: rs121913492
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.010 1.000 1 2019 2019
dbSNP: rs121913492
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0346392
Disease: Nevus of choroid
Nevus of choroid 		0.010 1.000 1 2019 2019
dbSNP: rs121913492
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0334431
Disease: Melanocytoma
Melanocytoma 		0.010 1.000 1 2016 2016
dbSNP: rs121913492
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0026499
Disease: Monosomy
Monosomy 		0.010 1.000 1 2019 2019
dbSNP: rs121913492
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2019 2019
dbSNP: rs121913492
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0346390
Disease: Hemangioma of choroid
Hemangioma of choroid 		0.010 1.000 1 2019 2019
dbSNP: rs121913492
rs121913492
GNAQ
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0343082
Disease: Senile angioma
Senile angioma 		0.010 1.000 1 2019 2019
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0085653
Disease: Pyogenic granuloma
Pyogenic granuloma 		0.010 1.000 1 2016 2016
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0263218
Disease: Pyogenic granuloma of skin
Pyogenic granuloma of skin 		0.010 1.000 1 2016 2016
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2017 2017