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rs797045046

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045046(C;T)
Make rs797045046(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position58891760
GeneGNAS
is asnp
is mentioned by
dbSNPrs797045046
ebirs797045046
HLIrs797045046
Exacrs797045046
Varsomers797045046
Maprs797045046
PheGenIrs797045046
hapmaprs797045046
1000 genomesrs797045046
hgdprs797045046
ensemblrs797045046
gopubmedrs797045046
geneviewrs797045046
scholarrs797045046
googlers797045046
pharmgkbrs797045046
gwascentralrs797045046
openSNPrs797045046
23andMers797045046
23andMe allrs797045046
SNP Nexus

SNPshotrs797045046
SNPdbers797045046
MSV3drs797045046
GWAS Ctlgrs797045046
Max Magnitude0
ClinVar
Risk rs797045046(T;T)
Alt rs797045046(T;T)
Reference rs797045046(C;C)
Significance Pathogenic
Disease Pseudohypoparathyroidism type 1A Pseudopseudohypoparathyroidism
Variation info
Gene GNAS
CLNDBN Pseudohypoparathyroidism type 1A Pseudopseudohypoparathyroidism
Reversed 0
HGVS NC_000020.10:g.57466815C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191090.1,