Source: ALL

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: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.040 1.000 4 2006 2013
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.040 1.000 4 2006 2013
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.040 1.000 4 2006 2013
dbSNP: rs12203592
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.030 1.000 3 2011 2017
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.030 0.667 3 2004 2011
dbSNP: rs1799793
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.030 0.667 3 2005 2017
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.030 0.667 3 2004 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.020 0.500 2 2007 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.020 0.500 2 2005 2014
dbSNP: rs1805007
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.020 1.000 2 2002 2007
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.020 1.000 2 2002 2008
dbSNP: rs2228000
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.020 1.000 2 2012 2015
dbSNP: rs34637584
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.020 1.000 2 2012 2014
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.020 1.000 2 2007 2015
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2014 2014
dbSNP: rs1051740
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2015 2015
dbSNP: rs1057519874
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2016 2016
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2011 2011
dbSNP: rs1133400
rs1133400
INPP5A
1.000 0.080 10 132645884 missense variant A/G snv 0.22 0.18
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2015 2015
dbSNP: rs1232547491
rs1232547491
RHCE
0.851 0.120 1 25385838 missense variant A/G snv
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2002 2002
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2009 2009
dbSNP: rs1650697
rs1650697
DHFR ; MSH3
0.925 0.120 5 80654962 missense variant A/G;T snv 0.86
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2015 2015
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 < 0.001 1 2015 2015
dbSNP: rs1805008
rs1805008
MC1R
0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2002 2002
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2012 2012