Gene: GH1 ×
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: rs137853220
rs137853220
CSHL1 ; GH1 ; LOC112268204
4 0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs137853221
rs137853221
CSHL1 ; GH1 ; LOC112268204
2 0.925 0.160 17 63917803 missense variant T/C snv 0.010 1.000 1 1997 1997
dbSNP: rs137853222
rs137853222
CSHL1 ; GH1 ; LOC112268204
2 0.925 0.160 17 63918072 missense variant C/A;G snv 0.010 1.000 1 2005 2005
dbSNP: rs137853223
rs137853223
CSHL1 ; GH1 ; LOC112268204
4 0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06 0.010 1.000 1 2020 2020
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: rs761695685
rs761695685
GH1
2 0.925 0.200 17 63918865 intron variant T/C snv 0.010 1.000 1 2017 2017