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: 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: rs1057519742
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.730 1.000 3 2011 2018
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.050 1.000 5 2004 2017
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.030 1.000 3 2013 2017
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.010 1.000 1 2016 2016
dbSNP: rs200758755
rs200758755
MBD4
1.000 0.080 3 129431556 stop gained A/G;T snv 4.0E-06; 3.2E-05
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs387906849
rs387906849
BAP1
0.925 0.080 3 52405897 stop gained G/A snv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs760583024
rs760583024
MRGPRX1
1.000 0.080 11 18934156 missense variant G/A;T snv 8.0E-06
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.010 1.000 1 2018 2018