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rs137854532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854532(C;T)
Make rs137854532(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position58905443
GeneGNAS
is asnp
is mentioned by
dbSNPrs137854532
ebirs137854532
HLIrs137854532
Exacrs137854532
Varsomers137854532
Maprs137854532
PheGenIrs137854532
hapmaprs137854532
1000 genomesrs137854532
hgdprs137854532
ensemblrs137854532
gopubmedrs137854532
geneviewrs137854532
scholarrs137854532
googlers137854532
pharmgkbrs137854532
gwascentralrs137854532
openSNPrs137854532
23andMers137854532
23andMe allrs137854532
SNP Nexus

SNPshotrs137854532
SNPdbers137854532
MSV3drs137854532
GWAS Ctlgrs137854532
Max Magnitude0
OMIM139320
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137854532(T;T)
Alt rs137854532(T;T)
Reference rs137854532(C;C)
Significance Pathogenic
Disease Pseudohypoparathyroidism type 1A
Variation info
Gene GNAS
CLNDBN Pseudohypoparathyroidism type 1A
Reversed 0
HGVS NC_000020.10:g.57480498C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017286.26,