rs121909259
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121909259(A;A) |
Make rs121909259(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 122261924 |
Gene | CASR |
is a | snp |
is | mentioned by |
dbSNP | rs121909259 |
dbSNP (classic) | rs121909259 |
ClinGen | rs121909259 |
ebi | rs121909259 |
HLI | rs121909259 |
Exac | rs121909259 |
Gnomad | rs121909259 |
Varsome | rs121909259 |
LitVar | rs121909259 |
Map | rs121909259 |
PheGenI | rs121909259 |
Biobank | rs121909259 |
1000 genomes | rs121909259 |
hgdp | rs121909259 |
ensembl | rs121909259 |
geneview | rs121909259 |
scholar | rs121909259 |
rs121909259 | |
pharmgkb | rs121909259 |
gwascentral | rs121909259 |
openSNP | rs121909259 |
23andMe | rs121909259 |
SNPshot | rs121909259 |
SNPdbe | rs121909259 |
MSV3d | rs121909259 |
GWAS Ctlg | rs121909259 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909259(A;A) |
Alt | rs121909259(A;A) |
Reference | Rs121909259(G;G) |
Significance | Pathogenic |
Disease | Hypocalciuric hypercalcemia Neonatal severe hyperparathyroidism |
Variation | info |
Gene | CASR |
CLNDBN | Hypocalciuric hypercalcemia, familial, type 1 Neonatal severe hyperparathyroidism |
Reversed | 0 |
HGVS | NC_000003.11:g.121980771G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008811.4, RCV000008812.4, |