Source: BEFREE ×
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: rs121909357
rs121909357
GHR
1 1.000 0.120 5 42694991 missense variant T/C snv 0.810 1.000 1 1989 2004
dbSNP: rs121909366
rs121909366
GHR
3 0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 0.810 1.000 1 1989 2004
dbSNP: rs1164396446
rs1164396446
GHR
1 1.000 0.120 5 42711319 missense variant G/T snv 0.710 1.000 1 2004 2004
dbSNP: rs121909362
rs121909362
GHR
4 0.827 0.160 5 42699919 missense variant C/T snv 3.9E-03 4.1E-03 0.710 1.000 1 1989 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: rs751687643
rs751687643
IL18R1
1 1.000 0.120 2 102368050 missense variant C/T snv 3.6E-05 4.9E-05 0.010 1.000 1 1991 1991
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: rs760360403
rs760360403
GHR
1 1.000 0.120 5 42688931 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs781615812
rs781615812
MPG
1 1.000 0.120 16 79560 missense variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2004 2004