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: rs397516792
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 4 2009 2015
dbSNP: rs121913378
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 14 2002 2014
dbSNP: rs121913368
rs121913368
BRAF
0.925 0.040 7 140753345 missense variant AG/GA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 12 2002 2018
dbSNP: rs1057519710
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 9 1995 2013
dbSNP: rs121913248
rs121913248
NRAS
1.000 0.040 1 114716109 missense variant C/G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 2 2001 2014
dbSNP: rs121913355
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 2 2009 2014
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2014 2016
dbSNP: rs1057519807
rs1057519807
MAP2K2
1.000 0.040 19 4110586 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2014 2014
dbSNP: rs1057519808
rs1057519808
MAP2K2
1.000 0.040 19 4117543 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2013 2014
dbSNP: rs121913375
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2014 2018
dbSNP: rs121913517
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 18 1995 2014
dbSNP: rs121913235
rs121913235
KIT
0.925 0.080 4 54727437 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 14 1995 2012
dbSNP: rs121913255
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 13 1989 2014
dbSNP: rs121913369
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 12 2002 2014
dbSNP: rs121434596
rs121434596
NRAS
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 10 1989 2014
dbSNP: rs121434595
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 9 1989 2014
dbSNP: rs121913512
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 9 1995 2011
dbSNP: rs121913409
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 8 1997 2014
dbSNP: rs121913506
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 8 1995 2011
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 7 1997 2004
dbSNP: rs121913407
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 7 1997 2004
dbSNP: rs1057519708
rs1057519708
KIT
1.000 0.040 4 54728096 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2011 2014
dbSNP: rs1057519718
rs1057519718
BRAF
0.925 0.160 7 140753355 missense variant CA/TC mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2002 2010
dbSNP: rs1057519732
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2009 2012
dbSNP: rs1057519733
rs1057519733
MAP2K1
1.000 0.040 15 66481793 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2009 2013