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: rs121917883
rs121917883
GHSR
4 0.851 0.160 3 172447803 missense variant G/A;T snv 2.8E-05 0.800 1.000 2 2006 2009
dbSNP: rs121909361
rs121909361
GHR
1 1.000 0.120 5 42688937 missense variant G/A snv 2.4E-05 2.1E-05 0.800 1.000 1 1995 1995
dbSNP: rs121909362
rs121909362
GHR
5 0.827 0.160 5 42699919 missense variant C/T snv 3.9E-03 4.1E-03 0.800 1.000 1 1995 1995
dbSNP: rs199588904
rs199588904
GHSR
1 1.000 0.120 3 172447705 missense variant T/A snv 2.0E-04 7.0E-05 0.700 1.000 2 2006 2009
dbSNP: rs267606843
rs267606843
GHSR
1 1.000 0.120 3 172448408 stop gained C/G;T snv 4.6E-06 0.700 0
dbSNP: rs45588036
rs45588036
GHR
1 1.000 0.120 5 42711314 missense variant G/C snv 2.0E-05 5.6E-05 0.700 0
dbSNP: rs730880308
rs730880308
GHR
1 1.000 0.120 5 42718051 splice acceptor variant G/C snv 0.700 0
dbSNP: rs886037910
rs886037910
GHR
2 0.925 0.160 5 42699943 missense variant T/C snv 0.700 0