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rs397514457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514457(G;G)
Make rs397514457(G;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position58910807
GeneGNAS
is asnp
is mentioned by
dbSNPrs397514457
ebirs397514457
HLIrs397514457
Exacrs397514457
Varsomers397514457
Maprs397514457
PheGenIrs397514457
hapmaprs397514457
1000 genomesrs397514457
hgdprs397514457
ensemblrs397514457
gopubmedrs397514457
geneviewrs397514457
scholarrs397514457
googlers397514457
pharmgkbrs397514457
gwascentralrs397514457
openSNPrs397514457
23andMers397514457
23andMe allrs397514457
SNP Nexus

SNPshotrs397514457
SNPdbers397514457
MSV3drs397514457
GWAS Ctlgrs397514457
Max Magnitude0
ClinVar
Risk rs397514457(G;G)
Alt rs397514457(G;G)
Reference rs397514457(T;T)
Significance Pathogenic
Disease Pseudohypoparathyroidism type 1C
Variation info
Gene GNAS
CLNDBN Pseudohypoparathyroidism type 1C
Reversed 0
HGVS NC_000020.10:g.57485862T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022598.28,