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: rs1057519917
rs1057519917
0.807 0.160 1 11124517 missense variant A/G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121434595
rs121434595
0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121434596
rs121434596
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.710 1.000 1 2013 2016
dbSNP: rs121913250
rs121913250
0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913255
rs121913255
0.667 0.400 1 114713907 missense variant T/A;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs587777894
rs587777894
0.776 0.240 1 11124516 missense variant G/A;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519955
rs1057519955
1.000 0.080 2 218584682 missense variant C/T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519956
rs1057519956
0.827 0.200 2 218583025 missense variant T/C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519957
rs1057519957
0.827 0.200 2 218583026 missense variant C/G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519961
rs1057519961
0.851 0.240 2 197402759 missense variant C/T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913500
rs121913500
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs267599211
rs267599211
0.882 0.080 2 218584683 missense variant C/T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.710 1.000 1 2015 2016
dbSNP: rs754688962
rs754688962
0.851 0.200 2 197402637 missense variant T/C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs775623976
rs775623976
0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
0.752 0.240 3 41224609 missense variant T/A;C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519932
rs1057519932
0.683 0.320 3 179234298 missense variant T/G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519940
rs1057519940
0.752 0.200 3 179218308 missense variant G/T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519941
rs1057519941
0.776 0.240 3 179203761 missense variant T/C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519942
rs1057519942
0.724 0.320 3 179203760 missense variant G/A snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913274
rs121913274
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016