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: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0025202
Disease: melanoma
melanoma 		0.100 0.900 10 2006 2017
dbSNP: rs1231071385
rs1231071385
ATF2
1.000 0.040 2 175093177 frameshift variant -/G ins
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2010 2010
dbSNP: rs1351383
rs1351383
PSMB9 ; TAP1
1.000 0.040 6 32854492 intron variant A/C snv 0.43
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs144460286
rs144460286
EGFR
0.925 0.080 7 55155922 missense variant A/C snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2010 2010
dbSNP: rs1453167097
rs1453167097
TP53
0.925 0.080 17 7675172 missense variant A/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs374980122
rs374980122
BCL2L11 ; MIR4435-2HG
1.000 0.040 2 111142384 missense variant A/C snv 1.3E-05 3.5E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
dbSNP: rs397507482
rs397507482
BRAF
0.882 0.040 7 140753386 missense variant A/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs4845622
rs4845622
IL6R
1.000 0.040 1 154438943 intron variant A/C snv 0.32
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs1057520031
rs1057520031
KIT
1.000 0.040 4 54727440 missense variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
dbSNP: rs11225395
rs11225395
MMP8
0.776 0.360 11 102725749 intron variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs206118
rs206118
BRCA2
0.925 0.080 13 32315655 5 prime UTR variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs2227981
rs2227981
PDCD1 ; LOC105373977
0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2018 2018
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: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2017 2017
dbSNP: rs1057519742
rs1057519742
GNA11
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: 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: rs121913366
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 2 1989 2017
dbSNP: rs1990330
rs1990330
TEAD4
0.925 0.080 12 3038296 intron variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs7041
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2012 2012
dbSNP: rs8192284
rs8192284
IL6R
0.724 0.720 1 154454494 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0025202
Disease: melanoma
melanoma 		0.050 1.000 5 2009 2016
dbSNP: rs1024708183
rs1024708183
MAP2K7
0.925 0.040 19 7909761 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2005 2015
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0025202
Disease: melanoma
melanoma 		0.020 0.500 2 2013 2015
dbSNP: rs1060502550
rs1060502550
KIT
1.000 0.040 4 54727488 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2011 2011