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: rs12202284
rs12202284
LOC105374875
0.925 0.080 6 471136 intron variant C/A;T snv
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.700 1.000 1 2013 2013
dbSNP: rs12203592
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.700 1.000 1 2013 2013
dbSNP: rs1805007
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.700 1.000 1 2013 2013
dbSNP: rs8015138
rs8015138
GNG2
1.000 0.080 14 51843386 intron variant A/C;T snv
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.700 1.000 1 2013 2013
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.030 0.667 3 2004 2014
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.030 1.000 3 2002 2017
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.020 1.000 2 2012 2017
dbSNP: rs1799793
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.020 0.500 2 2007 2017
dbSNP: rs2228527
rs2228527
ERCC6
0.925 0.080 10 49470323 missense variant T/C snv 0.22 0.20
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.020 1.000 2 2012 2017
dbSNP: rs2228529
rs2228529
ERCC6
0.925 0.080 10 49459059 missense variant T/C snv 0.22 0.19
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.020 1.000 2 2012 2017
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs141193530
rs141193530
GRHL3
1.000 0.080 1 24342969 missense variant C/G snv 5.1E-03 5.3E-03
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs1477800256
rs1477800256
INPP5K
0.925 0.080 17 1509326 missense variant G/C snv
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1805005
rs1805005
MC1R
0.827 0.080 16 89919436 missense variant G/T snv 8.6E-02 8.0E-02
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1805006
rs1805006
MC1R
0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs401681
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs4134822
rs4134822
XAB2
1.000 0.080 19 7627389 missense variant C/T snv 3.8E-05 1.4E-05
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 < 0.001 1 2017 2017
dbSNP: rs486907
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		0.010 1.000 1 2011 2011