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rs121918118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918118(A;A)
Make rs121918118(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position30971183
GeneGHRHR
is asnp
is mentioned by
dbSNPrs121918118
ebirs121918118
HLIrs121918118
Exacrs121918118
Varsomers121918118
Maprs121918118
PheGenIrs121918118
hapmaprs121918118
1000 genomesrs121918118
hgdprs121918118
ensemblrs121918118
gopubmedrs121918118
geneviewrs121918118
scholarrs121918118
googlers121918118
pharmgkbrs121918118
gwascentralrs121918118
openSNPrs121918118
23andMers121918118
23andMe allrs121918118
SNP Nexus

SNPshotrs121918118
SNPdbers121918118
MSV3drs121918118
GWAS Ctlgrs121918118
GMAF0.0004591
Max Magnitude0
OMIM139191
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918118(A;A)
Alt rs121918118(A;A)
Reference rs121918118(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.31010798T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017362.26,