rs587776829
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTGA;CTGA) | 0 | common in clinvar |
Make rs587776829(-;-) |
Make rs587776829(-;GACT) |
Make rs587776829(GACT;GACT) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 58909196 |
Gene | GNAS |
is a | snp |
is | mentioned by |
dbSNP | rs587776829 |
dbSNP (classic) | rs587776829 |
ClinGen | rs587776829 |
ebi | rs587776829 |
HLI | rs587776829 |
Exac | rs587776829 |
Gnomad | rs587776829 |
Varsome | rs587776829 |
LitVar | rs587776829 |
Map | rs587776829 |
PheGenI | rs587776829 |
Biobank | rs587776829 |
1000 genomes | rs587776829 |
hgdp | rs587776829 |
ensembl | rs587776829 |
geneview | rs587776829 |
scholar | rs587776829 |
rs587776829 | |
pharmgkb | rs587776829 |
gwascentral | rs587776829 |
openSNP | rs587776829 |
23andMe | rs587776829 |
SNPshot | rs587776829 |
SNPdbe | rs587776829 |
MSV3d | rs587776829 |
GWAS Ctlg | rs587776829 |
Max Magnitude | 0 |
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, |