Source: BEFREE

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: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0025202
Disease: melanoma
melanoma
0.800 0.981 452 2002 2020
dbSNP: rs121913227
rs121913227
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 34 2002 2020
dbSNP: rs397517132
rs397517132
0.623 0.280 7 55191846 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma
0.100 0.941 17 2011 2019
dbSNP: rs1057519695
rs1057519695
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 16 1989 2019
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 16 1989 2019
dbSNP: rs1057519834
rs1057519834
0.658 0.480 1 114713908 missense variant TG/CT mnv
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 15 2005 2019
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0025202
Disease: melanoma
melanoma
0.100 0.900 10 2006 2017
dbSNP: rs878854066
rs878854066
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0025202
Disease: melanoma
melanoma
0.100 0.900 10 2006 2017
dbSNP: rs121913254
rs121913254
0.658 0.440 1 114713909 stop gained G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.780 1.000 8 1989 2016
dbSNP: rs1057519874
rs1057519874
0.807 0.120 7 6387261 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.070 1.000 7 2013 2019
dbSNP: rs121913513
rs121913513
KIT
0.776 0.120 4 54727495 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma
0.760 1.000 6 1995 2016
dbSNP: rs12203592
rs12203592
0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0025202
Disease: melanoma
melanoma
0.060 1.000 6 2010 2017
dbSNP: rs401681
rs401681
0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0025202
Disease: melanoma
melanoma
0.860 1.000 6 2010 2015
dbSNP: rs104894098
rs104894098
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma
0.050 1.000 5 1999 2015
dbSNP: rs1057519742
rs1057519742
0.827 0.160 19 3118944 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.750 1.000 5 1989 2018
dbSNP: rs104894340
rs104894340
0.827 0.200 12 57751647 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.740 0.600 4 2003 2014
dbSNP: rs121913492
rs121913492
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.740 1.000 4 1989 2018
dbSNP: rs1057519853
rs1057519853
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0025202
Disease: melanoma
melanoma
0.030 1.000 3 2012 2018
dbSNP: rs786204195
rs786204195
0.851 0.200 9 21974686 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.030 0.667 3 2006 2008
dbSNP: rs1024708183
rs1024708183
0.925 0.040 19 7909761 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma
0.020 1.000 2 2005 2015
dbSNP: rs1057519731
rs1057519731
0.925 0.040 15 66436816 missense variant G/C snv
CUI: C0025202
Disease: melanoma
melanoma
0.720 1.000 2 2011 2014
dbSNP: rs1057519856
rs1057519856
0.925 0.040 15 66436815 missense variant T/A snv
CUI: C0025202
Disease: melanoma
melanoma
0.020 1.000 2 2014 2014
dbSNP: rs11551405
rs11551405
1.000 0.040 3 53284850 3 prime UTR variant C/A snv 0.16
CUI: C0025202
Disease: melanoma
melanoma
0.020 1.000 2 2016 2018
dbSNP: rs121913233
rs121913233
0.627 0.520 11 533874 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.720 1.000 2 2016 2018
dbSNP: rs121913240
rs121913240
0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.020 1.000 2 2016 2018