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: rs28933068
rs28933068
FGFR3
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.020 0.500 2 1998 1998
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
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: rs28931614
rs28931614
FGFR3
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.060 1.000 6 1999 2016
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: 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: rs397515453
rs397515453
PIK3R1
11 0.752 0.440 5 68296301 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
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: rs587781858
rs587781858
TP53
12 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
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: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs122460151
rs122460151
ARSL
5 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs587779349
rs587779349
BRCA2
8 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
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: rs121909173
rs121909173
HESX1
5 0.851 0.240 3 57199901 missense variant C/G snv 2.8E-05 1.4E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs137853092
rs137853092
WNK4
5 0.851 0.240 17 42787494 missense variant C/G snv 0.010 1.000 1 2011 2011
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
dbSNP: rs1481733213
rs1481733213
ATR
5 0.851 0.240 3 142568059 splice region variant T/C snv 0.700 0
dbSNP: rs1553761113
rs1553761113
ATR
5 0.851 0.240 3 142507967 missense variant C/A snv 0.700 0
dbSNP: rs1057517917
rs1057517917
PTPN11
2 0.925 0.200 12 112450368 missense variant AT/GC mnv 0.010 < 0.001 1 2006 2006
dbSNP: rs1131691804
rs1131691804
FBN1
8 0.807 0.200 15 48463123 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121918010
rs121918010
ALPL
5 0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 0.010 1.000 1 2014 2014