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: rs401681
rs401681
0.679 0.464 5 1321972 intron variant C/T snp 0.48
CUI: C0025202
Disease: melanoma
melanoma
0.850 1.000 5 2011 2016
dbSNP: rs3219090
rs3219090
1.000 0.036 1 226376990 intron variant T/C snp 0.57
CUI: C0025202
Disease: melanoma
melanoma
0.820 1.000 2 2011 2013
dbSNP: rs17119461
rs17119461
1.000 0.036 10 105756594 intergenic variant T/C snp 7.4E-02
CUI: C0025202
Disease: melanoma
melanoma
0.810 1.000 1 2012 2016
dbSNP: rs1801516
rs1801516
ATM
0.715 0.214 11 108304735 missense variant G/A snp 0.11 0.11
CUI: C0025202
Disease: melanoma
melanoma
0.810 1.000 1 2011 2017
dbSNP: rs45430
rs45430
MX2
1.000 0.036 21 41374154 intron variant C/T snp 0.50
CUI: C0025202
Disease: melanoma
melanoma
0.810 1.000 1 2011 2017
dbSNP: rs4698934
rs4698934
1.000 0.036 4 105218230 intron variant T/C snp 0.12
CUI: C0025202
Disease: melanoma
melanoma
0.810 1.000 1 2014 2014
dbSNP: rs7023329
rs7023329
0.846 0.071 9 21816529 intron variant A/G snp 0.50
CUI: C0025202
Disease: melanoma
melanoma
0.810 1.000 1 2009 2017
dbSNP: rs910873
rs910873
1.000 0.036 20 34583968 intron variant G/A,C snp 4.4E-02; 3.2E-05
CUI: C0025202
Disease: melanoma
melanoma
0.810 < 0.001 1 2008 2017
dbSNP: rs113488022
rs113488022
0.407 0.786 7 140753336 missense variant snp 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.800 0.980 398 2002 2018
dbSNP: rs121913227
rs121913227
0.707 0.214 7 140753336 missense variant AC/CT,TT multinucleotide-polymorphism
CUI: C0025202
Disease: melanoma
melanoma
0.800 0.952 21 2002 2016
dbSNP: rs121913377
rs121913377
0.638 0.393 7 140753335 missense variant CA/AT,TT multinucleotide-polymorphism
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 13 2002 2018
dbSNP: rs11554290
rs11554290
0.618 0.464 1 114713908 missense variant T/A,C,G snp
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 11 1989 2016
dbSNP: rs1805007
rs1805007
0.756 0.286 16 89919709 missense variant C/A,G,T snp 4.4E-02 5.0E-02
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 10 2001 2017
dbSNP: rs121913254
rs121913254
0.647 0.429 1 114713909 missense variant G/A,C,T snp
CUI: C0025202
Disease: melanoma
melanoma
0.770 1.000 7 1989 2016
dbSNP: rs121913513
rs121913513
KIT
0.769 0.143 4 54727495 missense variant T/C snp
CUI: C0025202
Disease: melanoma
melanoma
0.750 1.000 5 1995 2015
dbSNP: rs121913237
rs121913237
0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.740 0.750 4 1989 2014
dbSNP: rs16891982
rs16891982
0.878 0.036 5 33951588 missense variant C/A,G snp 0.65 0.68
CUI: C0025202
Disease: melanoma
melanoma
0.740 0.750 4 2008 2017
dbSNP: rs1126809
rs1126809
0.724 0.321 11 89284793 missense variant G/A snp 0.18 0.18
CUI: C0025202
Disease: melanoma
melanoma
0.730 0.667 3 2008 2014
dbSNP: rs121913492
rs121913492
0.923 0.071 9 77794572 missense variant T/A,C,G snp
CUI: C0025202
Disease: melanoma
melanoma
0.730 1.000 3 1989 2016
dbSNP: rs104894340
rs104894340
0.846 0.214 12 57751647 missense variant C/A,T snp
CUI: C0025202
Disease: melanoma
melanoma
0.720 1.000 2 2003 2015
dbSNP: rs121913364
rs121913364
0.652 0.429 7 140753334 missense variant T/C,G snp 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.720 1.000 2 2002 2016
dbSNP: rs4911442
rs4911442
1.000 0.036 20 34767243 intron variant G/A snp 0.93
CUI: C0025202
Disease: melanoma
melanoma
0.720 1.000 2 2008 2016
dbSNP: rs10757257
rs10757257
1.000 0.036 9 21806565 intron variant G/A snp 0.36
CUI: C0025202
Disease: melanoma
melanoma
0.710 1.000 1 2009 2012
dbSNP: rs11552823
rs11552823
1.000 0.036 9 21971117 missense variant G/A snp 4.3E-06
CUI: C0025202
Disease: melanoma
melanoma
0.710 1.000 1 1999 1999
dbSNP: rs121913248
rs121913248
1.000 0.036 1 114716109 missense variant C/G,T snp 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.710 1.000 1 2001 2015