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: rs11552823
rs11552823
CDKN2A
1.000 0.040 9 21971117 missense variant G/A;C snv 4.3E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 1999 1999
dbSNP: rs1805007
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0.938 15 2001 2019
dbSNP: rs1805008
rs1805008
MC1R
0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.090 0.889 9 2001 2019
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.070 0.857 7 2001 2018
dbSNP: rs885479
rs885479
MC1R
0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.070 0.714 7 2001 2019
dbSNP: rs2228479
rs2228479
MC1R
0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.040 0.750 4 2001 2013
dbSNP: rs121913248
rs121913248
NRAS
1.000 0.040 1 114716109 missense variant C/G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2001 2014
dbSNP: rs766310650
rs766310650
CDKN1A ; DINOL
1.000 0.040 6 36677906 5 prime UTR variant T/C snv 6.2E-05 2.1E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2001 2001
dbSNP: rs878853645
rs878853645
CDKN2A
1.000 0.040 9 21971176 missense variant C/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2001 2001
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0.979 454 2002 2020
dbSNP: rs121913377
rs121913377
BRAF
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
BRAF
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: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.060 0.667 6 2002 2011
dbSNP: rs121913364
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 2 2002 2016
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2002 2006
dbSNP: rs121913368
rs121913368
BRAF
0.925 0.040 7 140753345 missense variant AG/GA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2002 2018
dbSNP: rs121913378
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2002 2014
dbSNP: rs1359132498
rs1359132498
UTS2R
1.000 0.040 17 82374361 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs1405419494
rs1405419494
RUNX2
1.000 0.040 6 45422762 synonymous variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs755878795
rs755878795
RBP1 ; LOC100507291
1.000 0.040 3 139517664 missense variant C/G snv 4.4E-05 1.4E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs768569177
rs768569177
RUNX2
1.000 0.040 6 45422720 synonymous variant G/A snv 3.2E-05; 1.4E-05 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs104894340
rs104894340
CDK4
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: rs104894099
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2003 2010
dbSNP: rs758389471
rs758389471
CDKN2A
0.882 0.080 9 21971160 missense variant C/G;T snv 4.7E-06; 4.7E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2003 2003
dbSNP: rs34767364
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2004 2004