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rs137854534

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854534(C;G)
Make rs137854534(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position58909715
GeneGNAS
is asnp
is mentioned by
dbSNPrs137854534
ebirs137854534
HLIrs137854534
Exacrs137854534
Varsomers137854534
Maprs137854534
PheGenIrs137854534
hapmaprs137854534
1000 genomesrs137854534
hgdprs137854534
ensemblrs137854534
gopubmedrs137854534
geneviewrs137854534
scholarrs137854534
googlers137854534
pharmgkbrs137854534
gwascentralrs137854534
openSNPrs137854534
23andMers137854534
23andMe allrs137854534
SNP Nexus

SNPshotrs137854534
SNPdbers137854534
MSV3drs137854534
GWAS Ctlgrs137854534
Max Magnitude0
OMIM139320
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137854534(G;G)
Alt rs137854534(G;G)
Reference rs137854534(C;C)
Significance Pathogenic
Disease Pseudohypoparathyroidism type 1A
Variation info
Gene GNAS
CLNDBN Pseudohypoparathyroidism type 1A
Reversed 0
HGVS NC_000020.10:g.57484770C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017303.28,