Source: ALL

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: rs1057519705
rs1057519705
KIT
1.000 0.040 4 54727464 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2014 2014
dbSNP: rs1057519706
rs1057519706
KIT
1.000 0.040 4 54727474 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2014 2014
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: rs1057519710
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.710 1.000 10 1995 2013
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: rs1057519718
rs1057519718
0.925 0.160 7 140753355 missense variant CA/TC mnv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 3 2002 2010
dbSNP: rs1057519720
rs1057519720
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2005 2014
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: rs1057519729
rs1057519729
0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2009 2013
dbSNP: rs1057519730
rs1057519730
1.000 0.040 15 66436786 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2011 2012
dbSNP: rs1057519731
rs1057519731
0.925 0.040 15 66436816 missense variant G/C snv
CUI: C0025202
Disease: melanoma
melanoma
0.720 1.000 5 2011 2014
dbSNP: rs1057519732
rs1057519732
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
1.000 0.040 15 66481793 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 3 2009 2013
dbSNP: rs1057519734
rs1057519734
1.000 0.040 15 66485086 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2011 2012
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: rs1057519742
rs1057519742
0.827 0.160 19 3118944 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.750 1.000 9 1989 2018
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: rs1057519805
rs1057519805
1.000 0.040 15 66436839 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2009 2013
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 2 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 2 2013 2014
dbSNP: rs1057519809
rs1057519809
1.000 0.040 19 4117586 missense variant G/A;C snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2014 2014
dbSNP: rs1057519810
rs1057519810
1.000 0.040 19 4117619 missense variant C/A;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2014 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