rs137854536
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CG;CG) | 0 | common in clinvar |
Make rs137854536(CG;GC) |
Make rs137854536(GC;GC) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 58909737 |
Gene | GNAS |
is a | snp |
is | mentioned by |
dbSNP | rs137854536 |
dbSNP (classic) | rs137854536 |
ClinGen | rs137854536 |
ebi | rs137854536 |
HLI | rs137854536 |
Exac | rs137854536 |
Gnomad | rs137854536 |
Varsome | rs137854536 |
LitVar | rs137854536 |
Map | rs137854536 |
PheGenI | rs137854536 |
Biobank | rs137854536 |
1000 genomes | rs137854536 |
hgdp | rs137854536 |
ensembl | rs137854536 |
geneview | rs137854536 |
scholar | rs137854536 |
rs137854536 | |
pharmgkb | rs137854536 |
gwascentral | rs137854536 |
openSNP | rs137854536 |
23andMe | rs137854536 |
SNPshot | rs137854536 |
SNPdbe | rs137854536 |
MSV3d | rs137854536 |
GWAS Ctlg | rs137854536 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854536(GC;GC) |
Alt | rs137854536(GC;GC) |
Reference | Rs137854536(CG;CG) |
Significance | Pathogenic |
Disease | Pseudopseudohypoparathyroidism |
Variation | info |
Gene | GNAS |
CLNDBN | Pseudopseudohypoparathyroidism |
Reversed | 0 |
HGVS | NC_000020.10:g.57484792_57484793delCGinsGC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017307.24, |