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rs200848306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200848306(A;A)
Make rs200848306(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position30969879
GeneGHRHR
is asnp
is mentioned by
dbSNPrs200848306
ebirs200848306
HLIrs200848306
Exacrs200848306
Varsomers200848306
Maprs200848306
PheGenIrs200848306
hapmaprs200848306
1000 genomesrs200848306
hgdprs200848306
ensemblrs200848306
gopubmedrs200848306
geneviewrs200848306
scholarrs200848306
googlers200848306
pharmgkbrs200848306
gwascentralrs200848306
openSNPrs200848306
23andMers200848306
23andMe allrs200848306
SNP Nexus

SNPshotrs200848306
SNPdbers200848306
MSV3drs200848306
GWAS Ctlgrs200848306
Max Magnitude0
ClinVar
Risk rs200848306(A,T;A,T)
Alt rs200848306(A,T;A,T)
Reference rs200848306(G;G)
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.31009494G>A
CLNSRC ClinVar
CLNACC RCV000148941.1,