Source: CLINVAR

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: rs121913370
rs121913370
0.763 0.360 7 140753393 missense variant T/C;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2014 2014
dbSNP: rs121913372
rs121913372
1.000 0.040 7 140753321 missense variant CT/AA mnv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2014 2014
dbSNP: rs121913373
rs121913373
1.000 0.040 7 140753321 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2014 2014
dbSNP: rs121913376
rs121913376
0.925 0.080 7 140781597 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2014 2014
dbSNP: rs397507484
rs397507484
0.752 0.480 7 140753333 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2013 2013
dbSNP: rs794729219
rs794729219
0.882 0.240 7 140753352 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2014 2014