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: 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
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
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
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
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
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
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
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
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
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: rs121913337
rs121913337
0.925 0.200 7 140753353 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 3 2002 2014
dbSNP: rs1057519703
rs1057519703
KIT
1.000 0.040 4 54727418 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2014 2014
dbSNP: rs1057519704
rs1057519704
KIT
0.882 0.080 4 54727425 missense variant T/A snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 2 2011 2012
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: 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: 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: 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: 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