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: rs104894340
rs104894340
CDK4
1 0.827 0.200 12 57751647 missense variant C/A;T snv 0.740 0.600 4 2003 2014
dbSNP: rs104894099
rs104894099
CDKN2A
1 0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06 0.020 1.000 2 2003 2010
dbSNP: rs1057519731
rs1057519731
MAP2K1
1 0.925 0.040 15 66436816 missense variant G/C snv 0.720 1.000 2 2011 2014
dbSNP: rs1057519856
rs1057519856
MAP2K1
1 0.925 0.040 15 66436815 missense variant T/A snv 0.020 1.000 2 2014 2014
dbSNP: rs11547464
rs11547464
MC1R
1 1.000 0.040 16 89919683 missense variant G/A snv 5.3E-03 4.7E-03 0.020 1.000 2 2006 2011
dbSNP: rs11551405
rs11551405
DCP1A ; LOC107986087
1 1.000 0.040 3 53284850 3 prime UTR variant C/A snv 0.16 0.020 1.000 2 2016 2018
dbSNP: rs1278609613
rs1278609613
EDNRA
1 1.000 0.040 4 147542604 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 8.0E-06 0.020 1.000 2 2009 2018
dbSNP: rs1382979668
rs1382979668
USP28
1 1.000 0.040 11 113809254 missense variant T/A snv 4.0E-06 0.020 1.000 2 2016 2018
dbSNP: rs3219090
rs3219090
PARP1
1 1.000 0.040 1 226376990 intron variant T/C snv 0.58 0.820 1.000 2 2011 2013
dbSNP: rs397516792
rs397516792
MAP2K1
1 0.827 0.280 15 66436825 missense variant C/A;G;T snv 0.720 1.000 2 2009 2015
dbSNP: rs45430
rs45430
MX2
1 1.000 0.040 21 41374154 intron variant C/T snv 0.48 0.820 1.000 2 2011 2019
dbSNP: rs4911442
rs4911442
NCOA6
1 1.000 0.040 20 34767243 intron variant G/A snv 0.93 0.720 1.000 2 2008 2014
dbSNP: rs559848002
rs559848002
CDKN2A
1 0.925 0.120 9 21971147 missense variant T/C;G snv 4.7E-06 0.020 1.000 2 1999 2015
dbSNP: rs764323487
rs764323487
OCA2
1 1.000 0.040 15 27986635 missense variant T/A snv 0.020 1.000 2 2008 2008
dbSNP: rs773962041
rs773962041
SSTR4
1 1.000 0.040 20 23036363 missense variant C/G snv 1.6E-05 0.020 1.000 2 2009 2018
dbSNP: rs1015362
rs1015362 		1 0.925 0.080 20 34150806 regulatory region variant C/T snv 0.42 0.010 1.000 1 2013 2013
dbSNP: rs1015363
rs1015363 		1 1.000 0.040 20 34150529 intergenic variant G/A snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs10231520
rs10231520
ABCB5
1 1.000 0.040 7 20742471 intron variant C/T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs10515789
rs10515789
EBF1
1 1.000 0.040 5 159079407 intron variant T/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1051849
rs1051849
DUSP14
1 1.000 0.040 17 37513222 3 prime UTR variant T/C snv 9.9E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs1057519807
rs1057519807
MAP2K2
1 1.000 0.040 19 4110586 missense variant A/T snv 0.710 1.000 1 2014 2014
dbSNP: rs1057520031
rs1057520031
KIT
1 1.000 0.040 4 54727440 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1060502550
rs1060502550
KIT
1 1.000 0.040 4 54727488 missense variant A/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1063045
rs1063045
NBN
1 1.000 0.040 8 89982791 synonymous variant C/T snv 0.35 0.33 0.010 1.000 1 2007 2007
dbSNP: rs1064794292
rs1064794292
CDKN2A
1 0.882 0.200 9 21974760 missense variant C/T snv 0.710 1.000 1 2009 2009