Source: ALL
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: rs35927125
rs35927125
KLF11
3 0.925 0.080 2 10046292 missense variant A/G;T snv 9.3E-02 0.020 0.500 2 2006 2013
dbSNP: rs34336420
rs34336420
KLF11
4 0.882 0.080 2 10047996 missense variant C/G;T snv 4.0E-06; 3.3E-03 0.020 0.500 2 2005 2006
dbSNP: rs121912645
rs121912645
KLF11
4 0.882 0.080 2 10048376 missense variant G/T snv 1.3E-04 8.4E-05 0.020 0.500 2 2005 2006
dbSNP: rs867120336
rs867120336
KLF11
2 1.000 0.040 2 10048589 frameshift variant -/A delins 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs12910524
rs12910524 		2 1.000 0.040 15 101262360 intergenic variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2335491
rs2335491
FGFRL1
2 1.000 0.040 4 1017278 intron variant T/A;G snv 9.5E-06 0.010 1.000 1 2013 2013
dbSNP: rs3733197
rs3733197
BANK1
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.030 1.000 3 2001 2015
dbSNP: rs13114738
rs13114738
SLC39A8
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1520220
rs1520220
IGF1 ; LINC02456
9 0.807 0.280 12 102402744 intron variant G/C;T snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs2195239
rs2195239
IGF1 ; LINC02456
7 0.851 0.240 12 102462924 non coding transcript exon variant C/G snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2019 2019
dbSNP: rs696217
rs696217
GHRL ; GHRLOS
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.020 1.000 2 2006 2012
dbSNP: rs7950273
rs7950273
PDGFD
5 0.925 0.120 11 104160870 intron variant C/G snv 0.32 0.010 1.000 1 2008 2008
dbSNP: rs9282541
rs9282541
ABCA1
13 0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs7528153
rs7528153
VAV3
4 0.925 0.080 1 107765105 missense variant T/A snv 0.58 0.64 0.010 1.000 1 2017 2017
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.010 1.000 1 2011 2011
dbSNP: rs786203926
rs786203926
ATM
4 0.882 0.120 11 108227678 synonymous variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2009 2009
dbSNP: rs11212617
rs11212617
C11orf65
7 0.827 0.200 11 108412434 intron variant C/A snv 0.49 0.020 0.500 2 2012 2012
dbSNP: rs2268388
rs2268388
ACACB
6 0.851 0.200 12 109205840 intron variant G/A snv 0.14 0.030 1.000 3 2010 2015
dbSNP: rs2239607
rs2239607
ACACB
3 0.925 0.120 12 109209475 intron variant A/G snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs629301
rs629301
CELSR2
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs536289169
rs536289169
GSTM1 ; GSTM2
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs2241745
rs2241745
IRS2
4 0.882 0.120 13 109770184 intron variant C/T snv 0.88 0.010 1.000 1 2019 2019