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rs121918117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918117(G;T)
Make rs121918117(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position30969116
GeneGHRHR
is asnp
is mentioned by
dbSNPrs121918117
ebirs121918117
HLIrs121918117
Exacrs121918117
Varsomers121918117
Maprs121918117
PheGenIrs121918117
hapmaprs121918117
1000 genomesrs121918117
hgdprs121918117
ensemblrs121918117
gopubmedrs121918117
geneviewrs121918117
scholarrs121918117
googlers121918117
pharmgkbrs121918117
gwascentralrs121918117
openSNPrs121918117
23andMers121918117
23andMe allrs121918117
SNP Nexus

SNPshotrs121918117
SNPdbers121918117
MSV3drs121918117
GWAS Ctlgrs121918117
Max Magnitude0
OMIM139191
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918117(T;T)
Alt rs121918117(T;T)
Reference rs121918117(G;G)
Significance Pathogenic
Disease Isolated growth hormone deficiency type 1B
Variation info
Gene GHRHR
CLNDBN Isolated growth hormone deficiency type 1B
Reversed 0
HGVS NC_000007.13:g.31008731G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017360.27,