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rs606231413

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231413(A;A)
Make rs606231413(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position30971993
GeneGHRHR
is asnp
is mentioned by
dbSNPrs606231413
ebirs606231413
HLIrs606231413
Exacrs606231413
Varsomers606231413
Maprs606231413
PheGenIrs606231413
hapmaprs606231413
1000 genomesrs606231413
hgdprs606231413
ensemblrs606231413
gopubmedrs606231413
geneviewrs606231413
scholarrs606231413
googlers606231413
pharmgkbrs606231413
gwascentralrs606231413
openSNPrs606231413
23andMers606231413
23andMe allrs606231413
SNP Nexus

SNPshotrs606231413
SNPdbers606231413
MSV3drs606231413
GWAS Ctlgrs606231413
Max Magnitude0
ClinVar
Risk rs606231413(A;A)
Alt rs606231413(A;A)
Reference rs606231413(C;C)
Significance Probable-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.31011608C>A
CLNSRC
CLNACC RCV000148942.1,