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: rs121909357
rs121909357
GHR
1 1.000 0.120 5 42694991 missense variant T/C snv 0.810 1.000 10 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 10 1989 2004
dbSNP: rs121909367
rs121909367
GHR
1 1.000 0.120 5 42699896 missense variant T/C snv 0.800 1.000 9 1989 2004
dbSNP: rs121909368
rs121909368
GHR
1 1.000 0.120 5 42699899 missense variant A/C;T snv 0.800 1.000 9 1989 2004
dbSNP: rs121909369
rs121909369
GHR
1 1.000 0.120 5 42699902 missense variant T/A;G snv 0.800 1.000 9 1989 2004
dbSNP: rs121909362
rs121909362
GHR
5 0.827 0.160 5 42699919 missense variant C/T snv 3.9E-03 4.1E-03 0.710 1.000 10 1989 2007
dbSNP: rs1164396446
rs1164396446
GHR
1 1.000 0.120 5 42711319 missense variant G/T snv 0.710 1.000 1 2004 2004
dbSNP: rs121909365
rs121909365
GHR
2 0.925 0.120 5 42699830 missense variant C/A snv 4.0E-06 7.0E-06 0.700 1.000 9 1989 2004
dbSNP: rs121909358
rs121909358
GHR
1 1.000 0.120 5 42688934 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 0.700 1.000 2 1991 1993
dbSNP: rs1060499692
rs1060499692
GHR
1 1.000 0.120 5 42694931 stop gained G/A snv 0.700 0
dbSNP: rs121909359
rs121909359
GHR
1 1.000 0.120 5 42688921 stop gained C/A snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs121909360
rs121909360
GHR
1 1.000 0.120 5 42699978 synonymous variant A/G snv 2.0E-05 0.700 0
dbSNP: rs121909363
rs121909363
GHR
1 1.000 0.120 5 42711291 stop gained C/T snv 2.0E-05 7.7E-05 0.700 0
dbSNP: rs121909370
rs121909370
GHR
1 1.000 0.120 5 42629069 stop gained G/A;C snv 0.700 0
dbSNP: rs121909371
rs121909371
GHR
1 1.000 0.120 5 42694953 stop gained C/A snv 0.700 0
dbSNP: rs121909372
rs121909372
GHR
1 1.000 0.120 5 42694985 missense variant G/C snv 0.700 0
dbSNP: rs121909373
rs121909373
GHR
1 1.000 0.120 5 42699888 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs143814221
rs143814221
GHR
8 0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04 0.700 0
dbSNP: rs1554040858
rs1554040858
GHR
1 1.000 0.120 5 42718121 splice region variant G/A snv 0.700 0
dbSNP: rs190314158
rs190314158
GHR
1 1.000 0.120 5 42695014 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs730880281
rs730880281
GHR
1 1.000 0.120 5 42711206 splice acceptor variant G/T snv 4.0E-06 0.700 0
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