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rs121913494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913494(A;T)
Make rs121913494(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position58909541
GeneGNAS
is asnp
is mentioned by
dbSNPrs121913494
ebirs121913494
HLIrs121913494
Exacrs121913494
Varsomers121913494
Maprs121913494
PheGenIrs121913494
hapmaprs121913494
1000 genomesrs121913494
hgdprs121913494
ensemblrs121913494
gopubmedrs121913494
geneviewrs121913494
scholarrs121913494
googlers121913494
pharmgkbrs121913494
gwascentralrs121913494
openSNPrs121913494
23andMers121913494
23andMe allrs121913494
SNP Nexus

SNPshotrs121913494
SNPdbers121913494
MSV3drs121913494
GWAS Ctlgrs121913494
Max Magnitude0
OMIM139320
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121913494(G,T;G,T)
Alt rs121913494(G,T;G,T)
Reference rs121913494(A;A)
Significance Pathogenic
Disease Somatotroph adenoma Pituitary dependent hypercortisolism McCune-Albright syndrome
Variation info
Gene GNAS
CLNDBN Somatotroph adenoma Pituitary dependent hypercortisolism McCune-Albright syndrome
Reversed 0
HGVS NC_000020.10:g.57484596A>G; NC_000020.10:g.57484596A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017294.3, RCV000017295.3, RCV000191995.1, RCV000191994.1,