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: 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: 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: 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: rs137853220
rs137853220
CSHL1 ; GH1 ; LOC112268204
4 0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2007 2007
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: rs1448843898
rs1448843898
FGFR3
1 1.000 0.120 4 1805608 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs145730800
rs145730800
ANKRD11
1 1.000 0.120 16 89283963 missense variant G/A snv 5.2E-05 1.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs151241066
rs151241066
IARS2
1 1.000 0.120 1 220143003 missense variant G/A snv 2.0E-05 3.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs1555545033
rs1555545033
THRA
7 0.807 0.160 17 40088306 missense variant C/T snv 0.010 1.000 1 2017 2017
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: rs180177456
rs180177456
NLRP3
2 0.925 0.160 1 247424426 missense variant G/A snv 0.010 < 0.001 1 2019 2019
dbSNP: rs201151136
rs201151136
CSGALNACT1
1 1.000 0.120 8 19458486 missense variant T/C snv 1.4E-04 1.2E-04 0.010 1.000 1 2020 2020
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: 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: rs33958176
rs33958176
IGF1R
1 1.000 0.120 15 98911384 missense variant G/A snv 1.6E-03 1.7E-03 0.010 1.000 1 2007 2007
dbSNP: rs372703574
rs372703574
TGM2
4 0.851 0.160 20 38146858 missense variant G/A snv 4.8E-05 6.3E-05 0.010 1.000 1 2007 2007
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