rs121909260
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121909260(A;C) |
Make rs121909260(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 122257275 |
Gene | CASR |
is a | snp |
is | mentioned by |
dbSNP | rs121909260 |
dbSNP (classic) | rs121909260 |
ClinGen | rs121909260 |
ebi | rs121909260 |
HLI | rs121909260 |
Exac | rs121909260 |
Gnomad | rs121909260 |
Varsome | rs121909260 |
LitVar | rs121909260 |
Map | rs121909260 |
PheGenI | rs121909260 |
Biobank | rs121909260 |
1000 genomes | rs121909260 |
hgdp | rs121909260 |
ensembl | rs121909260 |
geneview | rs121909260 |
scholar | rs121909260 |
rs121909260 | |
pharmgkb | rs121909260 |
gwascentral | rs121909260 |
openSNP | rs121909260 |
23andMe | rs121909260 |
SNPshot | rs121909260 |
SNPdbe | rs121909260 |
MSV3d | rs121909260 |
GWAS Ctlg | rs121909260 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909260(C;C) rs121909260(G;G) |
Alt | rs121909260(C;C) rs121909260(G;G) |
Reference | Rs121909260(A;A) |
Significance | Pathogenic |
Disease | Hypocalcemia not provided Familial hypocalciuric hypercalcemia |
Variation | info |
Gene | CASR |
CLNDBN | Hypocalcemia, autosomal dominant 1 not provided Familial hypocalciuric hypercalcemia |
Reversed | 0 |
HGVS | NC_000003.11:g.121976122A>C; NC_000003.11:g.121976122A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008815.5, RCV000489583.1, RCV000029450.1, RCV000429931.1, |