Source: CURATED

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: rs17305657
rs17305657
1.000 0.040 20 33218782 intron variant T/C snv 5.2E-02
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2008 2011
dbSNP: rs1885120
rs1885120
1.000 0.040 20 34989186 intron variant C/G snv 0.96
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 2 2008 2017
dbSNP: rs2284063
rs2284063
0.851 0.160 22 38148291 non coding transcript exon variant A/G snv 0.40
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 2 2009 2017
dbSNP: rs28931588
rs28931588
0.701 0.200 3 41224606 missense variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2009 2014
dbSNP: rs397516896
rs397516896
0.763 0.360 7 140753355 missense variant C/G;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2002 2003
dbSNP: rs4238833
rs4238833
1.000 0.040 16 89984281 intron variant G/T snv 0.60
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2011 2012
dbSNP: rs45430
rs45430
MX2
1.000 0.040 21 41374154 intron variant C/T snv 0.48
CUI: C0025202
Disease: melanoma
melanoma
0.820 1.000 2 2011 2019
dbSNP: rs4785763
rs4785763
0.925 0.120 16 90000528 non coding transcript exon variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 2 2009 2017
dbSNP: rs7412746
rs7412746
1.000 0.040 1 150887995 intron variant C/T snv 0.41
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 2 2011 2017
dbSNP: rs910873
rs910873
0.882 0.160 20 34583968 intron variant G/A;C snv
CUI: C0025202
Disease: melanoma
melanoma
0.810 0.667 2 2008 2017
dbSNP: rs1035142
rs1035142
0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2011 2011
dbSNP: rs104894230
rs104894230
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: rs104894340
rs104894340
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: rs1057519702
rs1057519702
KIT
1.000 0.040 4 54726020 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2011 2011
dbSNP: rs1057519713
rs1057519713
KIT
0.925 0.120 4 54736498 missense variant G/C snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2013 2013
dbSNP: rs1057519728
rs1057519728
0.851 0.120 15 66435103 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2011 2011
dbSNP: rs1057519735
rs1057519735
1.000 0.040 15 66490577 missense variant A/C snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2011 2011
dbSNP: rs1057519804
rs1057519804
1.000 0.040 14 104776711 missense variant G/T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2014 2014
dbSNP: rs1057519806
rs1057519806
0.882 0.200 19 4110583 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2014 2014
dbSNP: rs1057519807
rs1057519807
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
1.000 0.040 19 4117543 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma
0.710 1.000 1 2013 2014
dbSNP: rs1057519811
rs1057519811
1.000 0.040 4 54274916 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2013 2013
dbSNP: rs1057519812
rs1057519812
1.000 0.040 4 54277977 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2013 2013
dbSNP: rs1057519813
rs1057519813
1.000 0.040 4 54285923 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2013 2013
dbSNP: rs1057519814
rs1057519814
1.000 0.040 4 54285934 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2013 2013