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rs587776829

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGA;CTGA) 0 common in clinvar
Make rs587776829(-;-)
Make rs587776829(-;GACT)
Make rs587776829(GACT;GACT)
ReferenceGRCh38 38.1/142
Chromosome20
Position58909196
GeneGNAS
is asnp
is mentioned by
dbSNPrs587776829
ebirs587776829
HLIrs587776829
Exacrs587776829
Varsomers587776829
Maprs587776829
PheGenIrs587776829
hapmaprs587776829
1000 genomesrs587776829
hgdprs587776829
ensemblrs587776829
gopubmedrs587776829
geneviewrs587776829
scholarrs587776829
googlers587776829
pharmgkbrs587776829
gwascentralrs587776829
openSNPrs587776829
23andMers587776829
23andMe allrs587776829
SNP Nexus

SNPshotrs587776829
SNPdbers587776829
MSV3drs587776829
GWAS Ctlgrs587776829
Max Magnitude0
ClinVar
Risk rs587776829(;)
Alt rs587776829(;)
Reference rs587776829(CTGA;CTGA)
Significance Pathogenic
Disease Pseudohypoparathyroidism type 1A Progressive osseous heteroplasia Pseudopseudohypoparathyroidism
Variation info
Gene GNAS
CLNDBN Pseudohypoparathyroidism type 1A Progressive osseous heteroplasia Pseudopseudohypoparathyroidism
Reversed 0
HGVS NC_000020.10:g.57484251_57484254delGACT
CLNSRC OMIM Allelic Variant
CLNACC RCV000017300.26, RCV000017301.30, RCV000017302.30,