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: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2012 2016
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2016 2016
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: rs12515480
rs12515480
GHR
1 1.000 0.160 5 42464332 intron variant C/T snv 1.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs2291340
rs2291340
SLC12A1
1 1.000 0.160 15 48255779 intron variant T/C;G snv 0.27 0.36 0.010 1.000 1 2014 2014
dbSNP: rs2854744
rs2854744
IGFBP3
20 0.695 0.520 7 45921476 intron variant G/T snv 0.48 0.010 1.000 1 2009 2009
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: rs373184101
rs373184101
CSHL1 ; GH1 ; LOC112268204
2 0.925 0.160 17 63917365 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3782415
rs3782415
SOCS2
3 0.925 0.280 12 93573979 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs60310264
rs60310264
LMNA
5 0.827 0.200 1 156130693 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs6873545
rs6873545
GHR
2 0.925 0.200 5 42631162 intron variant T/C snv 0.31 0.010 1.000 1 2018 2018
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: rs775145092
rs775145092
GPR101
1 1.000 0.160 X 137031083 missense variant C/G snv 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs7799039
rs7799039
LOC105375494
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 1.000 1 2016 2016