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rs137854530

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854530(A;G)
Make rs137854530(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position58891727
GeneGNAS
is asnp
is mentioned by
dbSNPrs137854530
ebirs137854530
HLIrs137854530
Exacrs137854530
Varsomers137854530
Maprs137854530
PheGenIrs137854530
hapmaprs137854530
1000 genomesrs137854530
hgdprs137854530
ensemblrs137854530
gopubmedrs137854530
geneviewrs137854530
scholarrs137854530
googlers137854530
pharmgkbrs137854530
gwascentralrs137854530
openSNPrs137854530
23andMers137854530
23andMe allrs137854530
SNP Nexus

SNPshotrs137854530
SNPdbers137854530
MSV3drs137854530
GWAS Ctlgrs137854530
Max Magnitude0
OMIM139320
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137854530(G;G)
Alt rs137854530(G;G)
Reference rs137854530(A;A)
Significance Pathogenic
Disease Pseudohypoparathyroidism type 1A
Variation info
Gene GNAS
CLNDBN Pseudohypoparathyroidism type 1A
Reversed 0
HGVS NC_000020.10:g.57466782A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017278.26,