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rs121918119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918119(G;G)
Make rs121918119(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position30974112
GeneGHRHR
is asnp
is mentioned by
dbSNPrs121918119
ebirs121918119
HLIrs121918119
Exacrs121918119
Varsomers121918119
Maprs121918119
PheGenIrs121918119
hapmaprs121918119
1000 genomesrs121918119
hgdprs121918119
ensemblrs121918119
gopubmedrs121918119
geneviewrs121918119
scholarrs121918119
googlers121918119
pharmgkbrs121918119
gwascentralrs121918119
openSNPrs121918119
23andMers121918119
23andMe allrs121918119
SNP Nexus

SNPshotrs121918119
SNPdbers121918119
MSV3drs121918119
GWAS Ctlgrs121918119
Max Magnitude0
OMIM139191
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918119(G;G)
Alt rs121918119(G;G)
Reference rs121918119(T;T)
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.31013727T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017363.23,