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: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0.979 30 2002 2020
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 22 2002 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0.981 19 2002 2020
dbSNP: rs11554290
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 16 1989 2019
dbSNP: rs1057519695
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 14 1989 2019
dbSNP: rs121913351
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 2 2013 2014
dbSNP: rs1057519834
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 1 2005 2019
dbSNP: rs121913315
rs121913315
STK11
0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 1 1999 1999
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 0 1999 2016
dbSNP: rs121909233
rs121909233
PTEN ; KLLN
1.000 0.040 10 87864524 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs121909234
rs121909234
PTEN
1.000 0.040 10 87957867 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs137853080
rs137853080
STK11
1.000 0.040 19 1207058 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs137853081
rs137853081
STK11
1.000 0.040 19 1219352 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs121913254
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.780 1.000 13 1989 2016
dbSNP: rs121913513
rs121913513
KIT
0.776 0.120 4 54727495 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.760 1.000 13 1995 2016
dbSNP: rs1057519742
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.750 1.000 5 1989 2018
dbSNP: rs104894097
rs104894097
CDKN2A
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.750 1.000 0 1995 2015
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 9 1989 2018
dbSNP: rs121913237
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.740 1.000 7 1989 2016
dbSNP: rs104894340
rs104894340
CDK4
0.827 0.200 12 57751647 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.740 0.600 1 2003 2014
dbSNP: rs121913366
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 13 1989 2017
dbSNP: rs121913250
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 8 1989 2016
dbSNP: rs121913364
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 7 2002 2016
dbSNP: rs121913338
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 5 1986 2019
dbSNP: rs1057519731
rs1057519731
MAP2K1
0.925 0.040 15 66436816 missense variant G/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 4 2011 2014