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: rs104894419
rs104894419
LIG4
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
dbSNP: rs759838407
rs759838407
LIG4
3 0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 0.700 1.000 1 2014 2014
dbSNP: rs267607048
rs267607048
SHOC2
16 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs3782886
rs3782886
BRAP
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.020 1.000 2 2017 2019
dbSNP: rs1057517917
rs1057517917
PTPN11
2 0.925 0.200 12 112450368 missense variant AT/GC mnv 0.010 < 0.001 1 2006 2006
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs111033552
rs111033552
COL10A1 ; NT5DC1
2 0.925 0.120 6 116120105 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs2076738
rs2076738
TG
6 0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs2076739
rs2076739
TG
5 0.827 0.200 8 132971804 missense variant T/A snv 0.010 1.000 1 2004 2004
dbSNP: rs1553761113
rs1553761113
ATR
5 0.851 0.240 3 142507967 missense variant C/A snv 0.700 0
dbSNP: rs1481733213
rs1481733213
ATR
5 0.851 0.240 3 142568059 splice region variant T/C snv 0.700 0
dbSNP: rs756254503
rs756254503
SPARC
2 0.925 0.120 5 151669740 missense variant G/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs780108348
rs780108348
NBAS
1 1.000 0.120 2 15402229 stop gained G/A snv 1.2E-05 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs60864230
rs60864230
LMNA
7 0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs60310264
rs60310264
LMNA
5 0.827 0.200 1 156130693 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs577492
rs577492
LMNA
1 1.000 0.120 1 156130948 intron variant T/C snv 0.22 0.010 1.000 1 2007 2007
dbSNP: rs121917883
rs121917883
GHSR
4 0.851 0.160 3 172447803 missense variant G/A;T snv 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs536639583
rs536639583
HOXD13
4 0.882 0.160 2 176092922 missense variant G/C snv 1.9E-04 6.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs121917843
rs121917843
PROP1
3 0.882 0.160 5 177994231 missense variant G/A snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121913479
rs121913479
FGFR3
10 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.020 1.000 2 1999 2002
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs75790268
rs75790268
FGFR3
2 0.925 0.120 4 1804377 missense variant G/T snv 0.020 1.000 2 1999 2012
dbSNP: rs28931614
rs28931614
FGFR3
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.060 1.000 6 1999 2016
dbSNP: rs17881656
rs17881656
FGFR3
3 0.925 0.240 4 1804404 missense variant T/A;C snv 8.0E-06; 3.3E-03 0.010 1.000 1 2015 2015