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rs121918121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918121(A;G)
Make rs121918121(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position30976439
GeneGHRHR
is asnp
is mentioned by
dbSNPrs121918121
ebirs121918121
HLIrs121918121
Exacrs121918121
Varsomers121918121
Maprs121918121
PheGenIrs121918121
hapmaprs121918121
1000 genomesrs121918121
hgdprs121918121
ensemblrs121918121
gopubmedrs121918121
geneviewrs121918121
scholarrs121918121
googlers121918121
pharmgkbrs121918121
gwascentralrs121918121
openSNPrs121918121
23andMers121918121
23andMe allrs121918121
SNP Nexus

SNPshotrs121918121
SNPdbers121918121
MSV3drs121918121
GWAS Ctlgrs121918121
Max Magnitude0
OMIM139191
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918121(G;G)
Alt rs121918121(G;G)
Reference rs121918121(A;A)
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.31016054A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017365.27,