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rs121918120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918120(A;A)
Make rs121918120(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position30974052
GeneGHRHR
is asnp
is mentioned by
dbSNPrs121918120
ebirs121918120
HLIrs121918120
Exacrs121918120
Varsomers121918120
Maprs121918120
PheGenIrs121918120
hapmaprs121918120
1000 genomesrs121918120
hgdprs121918120
ensemblrs121918120
gopubmedrs121918120
geneviewrs121918120
scholarrs121918120
googlers121918120
pharmgkbrs121918120
gwascentralrs121918120
openSNPrs121918120
23andMers121918120
23andMe allrs121918120
SNP Nexus

SNPshotrs121918120
SNPdbers121918120
MSV3drs121918120
GWAS Ctlgrs121918120
Max Magnitude0
OMIM139191
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918120(A;A)
Alt rs121918120(A;A)
Reference rs121918120(C;C)
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.31013667C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017364.27,