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: rs121909362
rs121909362
GHR
5 0.827 0.160 5 42699919 missense variant C/T snv 3.9E-03 4.1E-03 0.010 1.000 1 2007 2007
dbSNP: rs121912889
rs121912889
COL2A1
4 0.851 0.160 12 47974234 missense variant T/C snv 0.010 1.000 1 2007 2007
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: 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: 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: 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: 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: 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: 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: rs755905735
rs755905735
CSHL1 ; GH1 ; LOC112268204
4 0.851 0.160 17 63917338 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs759838407
rs759838407
LIG4
3 0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 0.700 1.000 1 2014 2014
dbSNP: rs886037910
rs886037910
GHR
2 0.925 0.160 5 42699943 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1566902569
rs1566902569
FBN1
9 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0
dbSNP: rs587777614
rs587777614
DNA2
3 0.882 0.160 10 68416703 frameshift variant G/- delins 0.700 0
dbSNP: rs587779348
rs587779348
CRIPT
3 0.882 0.160 2 46623765 frameshift variant T/- delins 0.700 0
dbSNP: rs587779356
rs587779356
CRIPT
3 0.882 0.160 2 46619676 frameshift variant -/GG delins 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
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: 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