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rs137854531

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854531(C;C)
Make rs137854531(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position58903569
GeneGNAS
is asnp
is mentioned by
dbSNPrs137854531
ebirs137854531
HLIrs137854531
Exacrs137854531
Varsomers137854531
Maprs137854531
PheGenIrs137854531
hapmaprs137854531
1000 genomesrs137854531
hgdprs137854531
ensemblrs137854531
gopubmedrs137854531
geneviewrs137854531
scholarrs137854531
googlers137854531
pharmgkbrs137854531
gwascentralrs137854531
openSNPrs137854531
23andMers137854531
23andMe allrs137854531
SNP Nexus

SNPshotrs137854531
SNPdbers137854531
MSV3drs137854531
GWAS Ctlgrs137854531
Max Magnitude0
OMIM139320
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137854531(C;C)
Alt rs137854531(C;C)
Reference rs137854531(T;T)
Significance Pathogenic
Disease Pseudohypoparathyroidism type 1A
Variation info
Gene GNAS
CLNDBN Pseudohypoparathyroidism type 1A
Reversed 0
HGVS NC_000020.10:g.57478624T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017285.25,