rs794729230
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs794729230(A;C) |
Make rs794729230(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 122284436 |
Gene | CASR |
is a | snp |
is | mentioned by |
dbSNP | rs794729230 |
dbSNP (classic) | rs794729230 |
ClinGen | rs794729230 |
ebi | rs794729230 |
HLI | rs794729230 |
Exac | rs794729230 |
Gnomad | rs794729230 |
Varsome | rs794729230 |
LitVar | rs794729230 |
Map | rs794729230 |
PheGenI | rs794729230 |
Biobank | rs794729230 |
1000 genomes | rs794729230 |
hgdp | rs794729230 |
ensembl | rs794729230 |
geneview | rs794729230 |
scholar | rs794729230 |
rs794729230 | |
pharmgkb | rs794729230 |
gwascentral | rs794729230 |
openSNP | rs794729230 |
23andMe | rs794729230 |
SNPshot | rs794729230 |
SNPdbe | rs794729230 |
MSV3d | rs794729230 |
GWAS Ctlg | rs794729230 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729230(C;C) |
Alt | rs794729230(C;C) |
Reference | Rs794729230(A;A) |
Significance | Probable-Pathogenic |
Disease | Hypocalcemia |
Variation | info |
Gene | CASR |
CLNDBN | Hypocalcemia, autosomal dominant 1 |
Reversed | 0 |
HGVS | NC_000003.11:g.122003283A>C |
CLNSRC | |
CLNACC | RCV000184051.1, |