rs863224876
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863224876(C;T) |
Make rs863224876(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 58909991 |
Gene | GNAS |
is a | snp |
is | mentioned by |
dbSNP | rs863224876 |
dbSNP (classic) | rs863224876 |
ClinGen | rs863224876 |
ebi | rs863224876 |
HLI | rs863224876 |
Exac | rs863224876 |
Gnomad | rs863224876 |
Varsome | rs863224876 |
LitVar | rs863224876 |
Map | rs863224876 |
PheGenI | rs863224876 |
Biobank | rs863224876 |
1000 genomes | rs863224876 |
hgdp | rs863224876 |
ensembl | rs863224876 |
geneview | rs863224876 |
scholar | rs863224876 |
rs863224876 | |
pharmgkb | rs863224876 |
gwascentral | rs863224876 |
openSNP | rs863224876 |
23andMe | rs863224876 |
SNPshot | rs863224876 |
SNPdbe | rs863224876 |
MSV3d | rs863224876 |
GWAS Ctlg | rs863224876 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224876(T;T) |
Alt | rs863224876(T;T) |
Reference | Rs863224876(C;C) |
Significance | Probable-Pathogenic |
Disease | Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1C |
Variation | info |
Gene | GNAS |
CLNDBN | Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1C |
Reversed | 0 |
HGVS | NC_000020.10:g.57485046C>T |
CLNSRC | |
CLNACC | RCV000196321.1, |