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: rs1051849
rs1051849
DUSP14
1.000 0.040 17 37513222 3 prime UTR variant T/C snv 9.9E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2013 2013
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
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: rs1799944
rs1799944
BRCA2
0.882 0.080 13 32337326 missense variant A/G snv 5.4E-02 4.5E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2008 2008
dbSNP: rs2107301
rs2107301
VDR
0.807 0.120 12 47861787 intron variant G/A snv 0.26
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2012 2012
dbSNP: rs2127675
rs2127675 		1.000 0.040 6 32883073 upstream gene variant A/G snv 0.36
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2012 2012
dbSNP: rs4608623
rs4608623
PLA2G6 ; MAFF
0.925 0.040 22 38201371 non coding transcript exon variant G/T snv 0.52
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs5352
rs5352
EDNRB ; EDNRB-AS1
0.827 0.200 13 77901095 missense variant C/T snv 1.0E-02 1.1E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2011 2011
dbSNP: rs776935407
rs776935407
SGSM3
0.851 0.080 22 40409261 missense variant T/A snv 4.1E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2005 2005
dbSNP: rs886040456
rs886040456
BRCA2
0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2008 2008
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: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0025202
Disease: melanoma
melanoma 		0.020 0.500 2 2010 2016
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: 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: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0025202
Disease: melanoma
melanoma 		0.030 0.667 3 2006 2016
dbSNP: rs786204195
rs786204195
CDKN2A
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: rs910873
rs910873
PIGU
0.882 0.160 20 34583968 intron variant G/A;C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.810 0.667 1 2008 2017
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: 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: 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: rs16891982
rs16891982
SLC45A2
0.776 0.200 5 33951588 missense variant C/A;G snv 0.65
CUI: C0025202
Disease: melanoma
melanoma 		0.750 0.833 5 2008 2017
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: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0025202
Disease: melanoma
melanoma 		0.080 0.875 8 2005 2018