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: rs138106763
rs138106763
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: rs2228612
rs2228612
0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 2019 2019
dbSNP: rs755660650
rs755660650
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: rs28362491
rs28362491
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 2016 2016
dbSNP: rs11225395
rs11225395
0.776 0.360 11 102725749 intron variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 2011 2011
dbSNP: rs17655
rs17655
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30
CUI: C0025202
Disease: melanoma
melanoma
0.020 1.000 2 2011 2015
dbSNP: rs861539
rs861539
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0025202
Disease: melanoma
melanoma
0.020 0.500 2 2010 2016
dbSNP: rs397514644
rs397514644
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: rs121434592
rs121434592
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: rs1351212535
rs1351212535
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: rs4698934
rs4698934
1.000 0.040 4 105218230 intron variant T/C snv 0.12
CUI: C0025202
Disease: melanoma
melanoma
0.810 1.000 1 2014 2014
dbSNP: rs17119461
rs17119461
1.000 0.040 10 105756594 intergenic variant T/C snv 7.7E-02
CUI: C0025202
Disease: melanoma
melanoma
0.810 1.000 1 2012 2014
dbSNP: rs17119490
rs17119490
1.000 0.040 10 105763169 intergenic variant G/A snv 6.3E-02
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 2014 2014
dbSNP: rs6707820
rs6707820
1.000 0.040 2 105809256 intron variant C/T snv 0.25
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 2017 2017
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: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 2008 2008
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0025202
Disease: melanoma
melanoma
0.810 1.000 1 2011 2017
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0025202
Disease: melanoma
melanoma
0.020 0.500 2 2013 2015
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: rs868443937
rs868443937
1.000 0.040 13 110715751 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 2004 2004
dbSNP: rs374980122
rs374980122
1.000 0.040 2 111142384 missense variant A/C snv 1.3E-05 3.5E-05
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 2009 2009
dbSNP: rs748523570
rs748523570
1.000 0.040 11 112150119 missense variant T/C snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 2005 2005
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: rs2234663
rs2234663
0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins
CUI: C0025202
Disease: melanoma
melanoma
0.010 1.000 1 2019 2019