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rs137854537

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854537(G;T)
Make rs137854537(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position58910740
GeneGNAS
is asnp
is mentioned by
dbSNPrs137854537
ebirs137854537
HLIrs137854537
Exacrs137854537
Varsomers137854537
Maprs137854537
PheGenIrs137854537
hapmaprs137854537
1000 genomesrs137854537
hgdprs137854537
ensemblrs137854537
gopubmedrs137854537
geneviewrs137854537
scholarrs137854537
googlers137854537
pharmgkbrs137854537
gwascentralrs137854537
openSNPrs137854537
23andMers137854537
23andMe allrs137854537
SNP Nexus

SNPshotrs137854537
SNPdbers137854537
MSV3drs137854537
GWAS Ctlgrs137854537
Max Magnitude0
OMIM139320
Desc
Variant0019
Relatedalso
ClinVar
Risk rs137854537(T;T)
Alt rs137854537(T;T)
Reference rs137854537(G;G)
Significance Pathogenic
Disease PSEUDOHYPOPARATHYROIDISM
Variation info
Gene GNAS
CLNDBN PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
Reversed 0
HGVS NC_000020.10:g.57485795G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017309.27,