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: 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: rs763538721
rs763538721
HIF1A ; HIF1A-AS3
0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.040 0.750 4 2007 2020
dbSNP: rs1320553543
rs1320553543
VAV1
1.000 0.040 19 6836546 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2020 2020
dbSNP: rs397517132
rs397517132
EGFR
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
NRAS
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
NRAS
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
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 15 2005 2019
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: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.100 1.000 13 2011 2019
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0025202
Disease: melanoma
melanoma 		0.100 0.833 12 2006 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: rs1057519874
rs1057519874
RAC1
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: 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: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.040 1.000 4 2013 2019
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2018 2019
dbSNP: rs121913338
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 2 1986 2019
dbSNP: rs36115365
rs36115365 		0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2017 2019
dbSNP: rs45430
rs45430
MX2
1.000 0.040 21 41374154 intron variant C/T snv 0.48
CUI: C0025202
Disease: melanoma
melanoma 		0.820 1.000 2 2011 2019
dbSNP: rs1034265990
rs1034265990
CDKN2A
0.925 0.120 9 21971123 missense variant G/A;T snv 4.4E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs1057519860
rs1057519860
EGFR
0.851 0.080 7 55160316 missense variant C/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs10816595
rs10816595 		0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs112445441
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs2228612
rs2228612
DNMT1
0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019