rs193922432
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922432(A;A) |
Make rs193922432(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 122257101 |
Gene | CASR |
is a | snp |
is | mentioned by |
dbSNP | rs193922432 |
dbSNP (classic) | rs193922432 |
ClinGen | rs193922432 |
ebi | rs193922432 |
HLI | rs193922432 |
Exac | rs193922432 |
Gnomad | rs193922432 |
Varsome | rs193922432 |
LitVar | rs193922432 |
Map | rs193922432 |
PheGenI | rs193922432 |
Biobank | rs193922432 |
1000 genomes | rs193922432 |
hgdp | rs193922432 |
ensembl | rs193922432 |
geneview | rs193922432 |
scholar | rs193922432 |
rs193922432 | |
pharmgkb | rs193922432 |
gwascentral | rs193922432 |
openSNP | rs193922432 |
23andMe | rs193922432 |
SNPshot | rs193922432 |
SNPdbe | rs193922432 |
MSV3d | rs193922432 |
GWAS Ctlg | rs193922432 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922432(A;A) |
Alt | rs193922432(A;A) |
Reference | Rs193922432(G;G) |
Significance | Probable-Pathogenic |
Disease | Familial hypocalciuric hypercalcemia Hypocalcemia Hypocalciuric hypercalcemia |
Variation | info |
Gene | CASR |
CLNDBN | Familial hypocalciuric hypercalcemia Hypocalcemia, autosomal dominant 1 Hypocalciuric hypercalcemia, familial, type 1 |
Reversed | 0 |
HGVS | NC_000003.11:g.121975948G>A |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029439.1, RCV000465400.1, |