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: rs1057519882
rs1057519882
0.807 0.200 9 21974678 missense variant C/A snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
0.752 0.240 16 3738616 missense variant C/A;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519885
rs1057519885
0.925 0.080 20 20052443 missense variant G/A snv
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: rs1057519890
rs1057519890
0.807 0.200 17 39723966 missense variant T/A snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519894
rs1057519894
0.925 0.160 7 148811650 missense variant T/A;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519896
rs1057519896
0.742 0.320 4 152326136 missense variant C/A;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519907
rs1057519907
KIT
0.925 0.120 4 54728057 missense variant A/C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519908
rs1057519908
0.882 0.120 15 66435105 missense variant T/G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909
0.790 0.240 15 66435116 missense variant A/C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519910
rs1057519910
0.851 0.160 19 4117551 missense variant A/C;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
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: rs1057519918
rs1057519918
0.851 0.200 8 127738390 missense variant C/T 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: rs1057519948
rs1057519948
0.851 0.120 7 6387262 missense variant C/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: rs1057519959
rs1057519959
0.882 0.200 11 66063028 missense variant A/C 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: rs1057519983
rs1057519983
0.724 0.360 17 7673797 missense variant A/G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016