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: rs28931614
rs28931614
FGFR3
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.060 1.000 6 1999 2016
dbSNP: rs75790268
rs75790268
FGFR3
2 0.925 0.120 4 1804377 missense variant G/T snv 0.020 1.000 2 1999 2012
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: rs1057517917
rs1057517917
PTPN11
2 0.925 0.200 12 112450368 missense variant AT/GC mnv 0.010 < 0.001 1 2006 2006
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: rs1131691804
rs1131691804
FBN1
8 0.807 0.200 15 48463123 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121912889
rs121912889
COL2A1
4 0.851 0.160 12 47974234 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2002 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: rs1314542724
rs1314542724
NPR2
2 0.925 0.120 9 35805595 missense variant C/T snv 0.010 < 0.001 1 2007 2007
dbSNP: rs137853092
rs137853092
WNK4
5 0.851 0.240 17 42787494 missense variant C/G snv 0.010 1.000 1 2011 2011
dbSNP: rs137853221
rs137853221
CSHL1 ; GH1 ; LOC112268204
2 0.925 0.160 17 63917803 missense variant T/C snv 0.010 1.000 1 1997 1997
dbSNP: rs137853222
rs137853222
CSHL1 ; GH1 ; LOC112268204
2 0.925 0.160 17 63918072 missense variant C/A;G snv 0.010 1.000 1 2005 2005
dbSNP: rs137853223
rs137853223
CSHL1 ; GH1 ; LOC112268204
4 0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs141842220
rs141842220
PCNA ; PCNA-AS1
1 1.000 0.120 20 5119600 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1555545033
rs1555545033
THRA
7 0.807 0.160 17 40088306 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs180177456
rs180177456
NLRP3
2 0.925 0.160 1 247424426 missense variant G/A snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2076739
rs2076739
TG
5 0.827 0.200 8 132971804 missense variant T/A snv 0.010 1.000 1 2004 2004
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: rs387906623
rs387906623
FBN1
4 0.882 0.120 15 48460258 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs387906918
rs387906918
CDT1
2 0.925 0.120 16 88804027 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs397514461
rs397514461
SHOX
5 0.827 0.200 Y 640842 missense variant G/C snv 0.010 1.000 1 2012 2012
dbSNP: rs397515453
rs397515453
PIK3R1
11 0.752 0.440 5 68296301 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs557914261
rs557914261
BLVRB
3 0.925 0.160 19 40458393 missense variant G/A snv 2.8E-05 0.010 < 0.001 1 2007 2007
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