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: 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: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2016 2016
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: rs2228000
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
dbSNP: rs62068372
rs62068372
VPS9D1 ; ZNF276
0.925 0.080 16 89718699 intron variant T/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs752907384
rs752907384
VEGFA
0.827 0.200 6 43782077 missense variant C/G;T snv 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2017 2017
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: rs1544410
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2017 2017
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: 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: rs4516035
rs4516035
VDR
0.776 0.360 12 47906043 non coding transcript exon variant T/C snv 0.31
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
dbSNP: rs749140677
rs749140677
VDR
0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs7975128
rs7975128
VDR
1.000 0.040 12 47852045 intron variant G/A snv 0.34
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs7975232
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2012 2012
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: rs1359132498
rs1359132498
UTS2R
1.000 0.040 17 82374361 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs1382979668
rs1382979668
USP28
1.000 0.040 11 113809254 missense variant T/A snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2016 2018
dbSNP: rs2733832
rs2733832
TYRP1 ; LURAP1L-AS1
1.000 0.040 9 12704725 intron variant C/A;G;T snv 8.0E-06; 0.45
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18
CUI: C0025202
Disease: melanoma
melanoma 		0.730 1.000 4 2008 2014
dbSNP: rs1393350
rs1393350
TYR ; LOC107984363
0.851 0.160 11 89277878 intron variant G/A snv 0.17
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 4 2009 2017
dbSNP: rs1847134
rs1847134
TYR ; LOC107984363
0.925 0.080 11 89272085 intron variant A/C snv 0.26
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs10830253
rs10830253
TYR
0.851 0.080 11 89294875 intron variant T/G snv 0.29
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
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: 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