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rs137854533

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854533(C;C)
Make rs137854533(C;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position58909542
GeneGNAS
is asnp
is mentioned by
dbSNPrs137854533
ebirs137854533
HLIrs137854533
Exacrs137854533
Varsomers137854533
Maprs137854533
PheGenIrs137854533
hapmaprs137854533
1000 genomesrs137854533
hgdprs137854533
ensemblrs137854533
gopubmedrs137854533
geneviewrs137854533
scholarrs137854533
googlers137854533
pharmgkbrs137854533
gwascentralrs137854533
openSNPrs137854533
23andMers137854533
23andMe allrs137854533
SNP Nexus

SNPshotrs137854533
SNPdbers137854533
MSV3drs137854533
GWAS Ctlgrs137854533
Max Magnitude0
OMIM139320
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137854533(C,T;C,T)
Alt rs137854533(C,T;C,T)
Reference rs137854533(G;G)
Significance Pathogenic
Disease Pituitary dependent hypercortisolism McCune-Albright syndrome
Variation info
Gene GNAS
CLNDBN Pituitary dependent hypercortisolism McCune-Albright syndrome
Reversed 0
HGVS NC_000020.10:g.57484597G>C; NC_000020.10:g.57484597G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017296.3, RCV000191996.1,