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: rs755100942
rs755100942
ARL11
0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2006 2006
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.060 1.000 6 1997 2007
dbSNP: rs104894104
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs1063045
rs1063045
NBN
1.000 0.040 8 89982791 synonymous variant C/T snv 0.35 0.33
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs1131691186
rs1131691186
CDKN2A
0.925 0.120 9 21974761 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
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: rs1232525952
rs1232525952
MC1R
0.925 0.080 16 89919597 synonymous variant G/A snv 8.1E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs1340863788
rs1340863788
MC1R
0.925 0.080 16 89919595 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
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: rs201326893
rs201326893
MC1R
1.000 0.040 16 89919714 stop gained C/A snv 8.4E-04 5.4E-04
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs387906410
rs387906410
CDKN2A
0.882 0.080 9 21971019 missense variant GC/AG mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs575031539
rs575031539
CDKN2A
0.925 0.080 9 21971020 missense variant C/G;T snv 4.2E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
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: rs755660650
rs755660650
SLCO6A1
0.827 0.120 5 102498596 missense variant G/C snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs778015444
rs778015444
PDGFRA
1.000 0.040 4 54274917 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs867185
rs867185
NBN
1.000 0.040 8 89962922 intron variant G/A snv 0.51
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
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: 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: rs764323487
rs764323487
OCA2
1.000 0.040 15 27986635 missense variant T/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2008 2008
dbSNP: rs1110400
rs1110400
MC1R
1.000 0.040 16 89919722 missense variant T/C snv 5.6E-03 6.6E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs121913113
rs121913113
FGFR3
0.882 0.240 4 1806076 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs1264171723
rs1264171723
BMP7 ; LOC112268270
1.000 0.040 20 57266050 missense variant G/A snv 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008