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: rs10816595
rs10816595 		0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs1136410
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2006 2006
dbSNP: rs11568953
rs11568953
EGF
1.000 0.040 4 109963240 synonymous variant A/G snv 9.7E-03 1.0E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2017 2017
dbSNP: rs1176796243
rs1176796243
MITF
1.000 0.040 3 69941240 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
dbSNP: rs1194330242
rs1194330242
MGRN1
1.000 0.040 16 4681743 missense variant A/G snv 1.4E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs1232547491
rs1232547491
RHCE
0.851 0.120 1 25385838 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
dbSNP: rs12621278
rs12621278
ITGA6
0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs12628
rs12628
HRAS ; LRRC56
0.776 0.160 11 534242 synonymous variant A/G snv 0.32 0.34
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2012 2012
dbSNP: rs138106763
rs138106763
SLC12A9
1.000 0.040 7 100857102 missense variant A/G snv 7.2E-05 1.2E-04
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 1998 1998
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: rs2074560
rs2074560
MX2
0.925 0.040 21 41380411 intron variant A/G snv 0.43
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
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: rs2301641
rs2301641
ABCB5
1.000 0.040 7 20658647 missense variant A/G snv 0.33 0.40
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs2981096
rs2981096
TERF1
1.000 0.040 8 73027927 intron variant A/G snv 3.1E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs4646536
rs4646536
CYP27B1
0.724 0.440 12 57764205 intron variant A/G snv 0.38 0.32
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2012 2012
dbSNP: rs7023329
rs7023329
MTAP
0.790 0.160 9 21816529 intron variant A/G snv 0.50
CUI: C0025202
Disease: melanoma
melanoma 		0.810 1.000 1 2009 2017
dbSNP: rs7944031
rs7944031
TEAD1
0.925 0.080 11 12907573 intron variant A/G snv 0.21
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs869330
rs869330
MTAP
0.925 0.080 9 21804618 intron variant A/G snv 0.62
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs947005337
rs947005337
POT1
0.925 0.120 7 124870933 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs9995
rs9995
OSGIN2 ; NBN
1.000 0.040 8 89933828 3 prime UTR variant A/G snv 0.32
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs121913279
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs1982151
rs1982151
RMI1
0.807 0.120 9 84002350 missense variant A/G;T snv 0.73
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs374827260
rs374827260
MC1R
1.000 0.040 16 89919608 missense variant A/G;T snv 4.1E-06; 1.2E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
dbSNP: rs401618
rs401618
HLA-A
0.827 0.120 6 29982433 downstream gene variant A/G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2010 2010