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rs397514456

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514456(G;T)
Make rs397514456(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position58910818
GeneGNAS
is asnp
is mentioned by
dbSNPrs397514456
ebirs397514456
HLIrs397514456
Exacrs397514456
Varsomers397514456
Maprs397514456
PheGenIrs397514456
hapmaprs397514456
1000 genomesrs397514456
hgdprs397514456
ensemblrs397514456
gopubmedrs397514456
geneviewrs397514456
scholarrs397514456
googlers397514456
pharmgkbrs397514456
gwascentralrs397514456
openSNPrs397514456
23andMers397514456
23andMe allrs397514456
SNP Nexus

SNPshotrs397514456
SNPdbers397514456
MSV3drs397514456
GWAS Ctlgrs397514456
Max Magnitude0
ClinVar
Risk rs397514456(A,T;A,T)
Alt rs397514456(A,T;A,T)
Reference rs397514456(G;G)
Significance Pathogenic
Disease Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 1A Pseudopseudohypoparathyroidism
Variation info
Gene GNAS
CLNDBN Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 1A Pseudopseudohypoparathyroidism
Reversed 0
HGVS NC_000020.10:g.57485873G>A; NC_000020.10:g.57485873G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022599.28, RCV000174485.1, RCV000174486.1, RCV000022597.28,