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rs606231412

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs606231412(C;C)
Make rs606231412(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position30971170
GeneGHRHR
is asnp
is mentioned by
dbSNPrs606231412
ebirs606231412
HLIrs606231412
Exacrs606231412
Varsomers606231412
Maprs606231412
PheGenIrs606231412
hapmaprs606231412
1000 genomesrs606231412
hgdprs606231412
ensemblrs606231412
gopubmedrs606231412
geneviewrs606231412
scholarrs606231412
googlers606231412
pharmgkbrs606231412
gwascentralrs606231412
openSNPrs606231412
23andMers606231412
23andMe allrs606231412
SNP Nexus

SNPshotrs606231412
SNPdbers606231412
MSV3drs606231412
GWAS Ctlgrs606231412
Max Magnitude0
ClinVar
Risk rs606231412(C;C)
Alt rs606231412(C;C)
Reference rs606231412(T;T)
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.31010785T>C
CLNSRC
CLNACC RCV000148940.1,