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: rs36115365
rs36115365 		0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2017 2019
dbSNP: rs1015362
rs1015362 		0.925 0.080 20 34150806 regulatory region variant C/T snv 0.42
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs1015363
rs1015363 		1.000 0.040 20 34150529 intergenic variant G/A snv 0.69
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
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: rs12029406
rs12029406 		0.882 0.120 1 199936700 intergenic variant C/T snv 0.36
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
dbSNP: rs12512631
rs12512631 		0.882 0.200 4 71735614 intergenic variant T/C snv 0.35
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
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: rs4911414
rs4911414 		0.882 0.120 20 34141638 regulatory region variant T/G snv 0.73
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2011 2013
dbSNP: rs5759167
rs5759167 		0.851 0.160 22 43104206 TF binding site variant G/T snv 0.40
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs6673928
rs6673928 		1.000 0.040 1 206763900 downstream gene variant G/T snv 0.20
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2016 2016
dbSNP: rs6695772
rs6695772 		1.000 0.040 1 212708597 intergenic variant C/G snv 0.58
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2016 2016
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: rs1351212535
rs1351212535
ABCA1
1.000 0.040 9 104831015 missense variant T/A snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2012 2012
dbSNP: rs10231520
rs10231520
ABCB5
1.000 0.040 7 20742471 intron variant C/T snv 0.29
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs17817117
rs17817117
ABCB5
1.000 0.040 7 20685203 intron variant G/C snv 0.29
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 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: rs749499406
rs749499406
ACD
1.000 0.040 16 67658771 missense variant C/T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs1800522
rs1800522
AIRE
1.000 0.040 21 44297667 synonymous variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2010 2010
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: rs397514644
rs397514644
AKT1
0.925 0.040 14 104780190 missense variant G/A snv 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs387906659
rs387906659
AKT2
0.742 0.280 19 40257052 stop gained C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs397514606
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2008 2008
dbSNP: rs137854567
rs137854567
APC
0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2018 2018
dbSNP: rs777980327
rs777980327
APC
0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs34301344
rs34301344
ARL11
0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2006 2006