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
4 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: rs6873545
rs6873545
GHR
2 0.925 0.200 5 42631162 intron variant T/C snv 0.31 0.010 1.000 1 2018 2018