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: rs137853223
rs137853223
CSHL1 ; GH1 ; LOC112268204
4 0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06 0.030 1.000 3 2001 2020
dbSNP: rs104893742
rs104893742
HESX1
3 0.882 0.160 3 57198405 missense variant C/T snv 8.0E-06 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs104893755
rs104893755
POU1F1
5 0.851 0.200 3 87259959 missense variant G/A snv 0.010 1.000 1 1997 1997
dbSNP: rs112180170
rs112180170
SOX3
1 1.000 0.120 X 140505047 missense variant C/G;T snv 3.1E-05; 2.9E-03 0.010 < 0.001 1 2011 2011
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: rs121918117
rs121918117
GHRHR
4 0.851 0.160 7 30969116 stop gained G/A;T snv 1.8E-04 0.010 1.000 1 2013 2013
dbSNP: rs121918118
rs121918118
GHRHR
3 0.882 0.120 7 30971183 missense variant T/A snv 2.4E-05 2.8E-05 0.010 1.000 1 2002 2002
dbSNP: rs137904970
rs137904970
LHX3
2 0.925 0.120 9 136200607 missense variant C/T snv 3.2E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs200743419
rs200743419
GHRHR
1 1.000 0.120 7 30977322 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs6181
rs6181
GHR
1 1.000 0.120 5 42699920 missense variant G/A snv 2.4E-04 9.8E-04 0.010 1.000 1 2002 2002
dbSNP: rs749318884
rs749318884
LHX4
2 0.925 0.120 1 180248431 missense variant G/A snv 8.4E-05 3.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs763850922
rs763850922
CSHL1 ; GH1 ; LOC112268204
2 0.925 0.120 17 63917760 splice region variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007