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rs137854538

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854538(A;A)
Make rs137854538(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position58909553
GeneGNAS
is asnp
is mentioned by
dbSNPrs137854538
ebirs137854538
HLIrs137854538
Exacrs137854538
Varsomers137854538
Maprs137854538
PheGenIrs137854538
hapmaprs137854538
1000 genomesrs137854538
hgdprs137854538
ensemblrs137854538
gopubmedrs137854538
geneviewrs137854538
scholarrs137854538
googlers137854538
pharmgkbrs137854538
gwascentralrs137854538
openSNPrs137854538
23andMers137854538
23andMe allrs137854538
SNP Nexus

SNPshotrs137854538
SNPdbers137854538
MSV3drs137854538
GWAS Ctlgrs137854538
Max Magnitude0
OMIM139320
Desc
Variant0020
Relatedalso
ClinVar
Risk rs137854538(A;A)
Alt rs137854538(A;A)
Reference rs137854538(G;G)
Significance Pathogenic
Disease Pseudohypoparathyroidism type 1A
Variation info
Gene GNAS
CLNDBN Pseudohypoparathyroidism type 1A
Reversed 0
HGVS NC_000020.10:g.57484608G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017311.26,