Source: BEFREE ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10816595
rs10816595 		1 0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs10830253
rs10830253
TYR
1 0.851 0.080 11 89294875 intron variant T/G snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs1110400
rs1110400
MC1R
1 1.000 0.040 16 89919722 missense variant T/C snv 5.6E-03 6.6E-03 0.010 1.000 1 2008 2008
dbSNP: rs11552823
rs11552823
CDKN2A
1 1.000 0.040 9 21971117 missense variant G/A;C snv 4.3E-06 0.010 1.000 1 1999 1999
dbSNP: rs1156242341
rs1156242341
PAX3
1 1.000 0.040 2 222202072 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs11568953
rs11568953
EGF
1 1.000 0.040 4 109963240 synonymous variant A/G snv 9.7E-03 1.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1176796243
rs1176796243
MITF
1 1.000 0.040 3 69941240 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1194330242
rs1194330242
MGRN1
1 1.000 0.040 16 4681743 missense variant A/G snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs121913113
rs121913113
FGFR3
1 0.882 0.240 4 1806076 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121913248
rs121913248
NRAS
1 1.000 0.040 1 114716109 missense variant C/G;T snv 4.0E-06 0.710 1.000 1 2001 2014
dbSNP: rs1231071385
rs1231071385
ATF2
1 1.000 0.040 2 175093177 frameshift variant -/G ins 0.010 1.000 1 2010 2010
dbSNP: rs1264171723
rs1264171723
BMP7 ; LOC112268270
1 1.000 0.040 20 57266050 missense variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1269304342
rs1269304342
HPS1
1 1.000 0.040 10 98425560 missense variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1281363680
rs1281363680
ATR
1 1.000 0.040 3 142566228 missense variant T/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1320553543
rs1320553543
VAV1
1 1.000 0.040 19 6836546 missense variant A/T snv 0.010 1.000 1 2020 2020
dbSNP: rs1335510
rs1335510
LOC107987026
1 1.000 0.040 9 21757804 intergenic variant T/G snv 0.32 0.710 1.000 1 2012 2015
dbSNP: rs1351212535
rs1351212535
ABCA1
1 1.000 0.040 9 104831015 missense variant T/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1351383
rs1351383
PSMB9 ; TAP1
1 1.000 0.040 6 32854492 intron variant A/C snv 0.43 0.010 < 0.001 1 2013 2013
dbSNP: rs1359132498
rs1359132498
UTS2R
1 1.000 0.040 17 82374361 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1378002074
rs1378002074
PTK2
1 1.000 0.040 8 140664985 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs137854567
rs137854567
APC
1 0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs1405419494
rs1405419494
RUNX2
1 1.000 0.040 6 45422762 synonymous variant G/A;T snv 2.4E-05; 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1425262191
rs1425262191
MITF
1 1.000 0.040 3 69965160 missense variant C/T snv 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs143670820
rs143670820
CDK4 ; TSPAN31 ; MIR6759
1 1.000 0.040 12 57749249 missense variant G/C;T snv 5.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs145735047
rs145735047
MAP3K5
1 1.000 0.040 6 136698529 missense variant G/A snv 0.010 1.000 1 2014 2014