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: rs7335046
rs7335046 		0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs1269304342
rs1269304342
HPS1
1.000 0.040 10 98425560 missense variant C/T snv 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
dbSNP: rs6465657
rs6465657
LMTK2
0.807 0.280 7 98187015 intron variant C/T snv 0.41 0.37
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2012 2012
dbSNP: rs781198499
rs781198499
CAST ; ERAP1
1.000 0.040 5 96765321 missense variant T/A;C snv 7.1E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs1334613121
rs1334613121
PRIMA1
0.925 0.080 14 93787688 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2016 2016
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: rs34767364
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2004 2004
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: rs1805009
rs1805009
MC1R ; TUBB3
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.070 0.857 7 2001 2018
dbSNP: rs371055548
rs371055548
MC1R
0.925 0.080 16 89919798 synonymous variant C/T snv 2.4E-05 2.1E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs885479
rs885479
MC1R
0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.070 0.714 7 2001 2019
dbSNP: rs1805008
rs1805008
MC1R
0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.090 0.889 9 2001 2019
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: 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: rs1805007
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0.938 15 2001 2019
dbSNP: rs11547464
rs11547464
MC1R
1.000 0.040 16 89919683 missense variant G/A snv 5.3E-03 4.7E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2006 2011
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: 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: rs2228479
rs2228479
MC1R
0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.040 0.750 4 2001 2013
dbSNP: rs1805006
rs1805006
MC1R
0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.040 1.000 4 1996 2015
dbSNP: rs34090186
rs34090186
MC1R
0.882 0.080 16 89919458 missense variant G/A snv 9.6E-04 2.7E-04
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2018 2018
dbSNP: rs1805005
rs1805005
MC1R
0.827 0.080 16 89919436 missense variant G/T snv 8.6E-02 8.0E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.060 1.000 6 2006 2015