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rs137854536

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Make rs137854536(CG;GC)
Make rs137854536(GC;GC)
ReferenceGRCh38 38.1/141
Chromosome20
Position58909737
GeneGNAS
is asnp
is mentioned by
dbSNPrs137854536
ebirs137854536
HLIrs137854536
Exacrs137854536
Varsomers137854536
Maprs137854536
PheGenIrs137854536
hapmaprs137854536
1000 genomesrs137854536
hgdprs137854536
ensemblrs137854536
gopubmedrs137854536
geneviewrs137854536
scholarrs137854536
googlers137854536
pharmgkbrs137854536
gwascentralrs137854536
openSNPrs137854536
23andMers137854536
23andMe allrs137854536
SNP Nexus

SNPshotrs137854536
SNPdbers137854536
MSV3drs137854536
GWAS Ctlgrs137854536
Max Magnitude0
OMIM139320
Desc
Variant0017
Relatedalso
ClinVar
Risk rs137854536(GC;GC)
Alt rs137854536(GC;GC)
Reference rs137854536(CG;CG)
Significance Pathogenic
Disease Pseudopseudohypoparathyroidism
Variation info
Gene GNAS
CLNDBN Pseudopseudohypoparathyroidism
Reversed 0
HGVS NC_000020.10:g.57484792_57484793delCGinsGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000017307.24,