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rs11554273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs11554273(C;T)
Make rs11554273(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position58909365
GeneGNAS
is asnp
is mentioned by
dbSNPrs11554273
ebirs11554273
HLIrs11554273
Exacrs11554273
Varsomers11554273
Maprs11554273
PheGenIrs11554273
hapmaprs11554273
1000 genomesrs11554273
hgdprs11554273
ensemblrs11554273
gopubmedrs11554273
geneviewrs11554273
scholarrs11554273
googlers11554273
pharmgkbrs11554273
gwascentralrs11554273
openSNPrs11554273
23andMers11554273
23andMe allrs11554273
SNP Nexus

SNPshotrs11554273
SNPdbers11554273
MSV3drs11554273
GWAS Ctlgrs11554273
Max Magnitude0
OMIM139320
Desc
Variant0008
Relatedalso
OMIM139320
Desc
Variant0013
Relatedalso
OMIM139320
Desc
Variant0021
Relatedalso


ClinVar
Risk rs11554273(A,G,T;A,G,T)
Alt rs11554273(A,G,T;A,G,T)
Reference rs11554273(C;C)
Significance Pathogenic
Disease Somatotroph adenoma Polyostotic fibrous dysplasia Cushing's syndrome McCune-Albright syndrome Sex cord-stromal tumor
Variation info
Gene GNAS
CLNDBN Somatotroph adenoma Polyostotic fibrous dysplasia, somatic, mosaic Cushing's syndrome McCune-Albright syndrome Sex cord-stromal tumor
Reversed 0
HGVS NC_000020.10:g.57484420C>A; NC_000020.10:g.57484420C>G; NC_000020.10:g.57484420C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017297.3, RCV000017298.3, RCV000017299.3, RCV000191991.1, RCV000017310.4, RCV000017287.4, RCV000017288.4, RCV000017289.4, RCV000133503.3,