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: rs1562606449
rs1562606449
LOC105375221 ; LOC105375222
1 1.000 0.160 7 31008681 intergenic variant G/T snv 0.700 0
dbSNP: rs71640273
rs71640273
CSHL1 ; GH1
1 1.000 0.160 17 63918393 missense variant G/A snv 1.2E-04 1.1E-04 0.700 0
dbSNP: rs71640276
rs71640276
CSHL1 ; GH1 ; LOC112268204
1 1.000 0.160 17 63918091 missense variant T/C snv 1.6E-04 2.7E-04 0.700 0
dbSNP: rs121918117
rs121918117
GHRHR
4 0.851 0.160 7 30969116 stop gained G/A;T snv 1.8E-04 0.010 1.000 1 2005 2005