rs201304511
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201304511(A;A) |
Make rs201304511(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 177387874 |
Gene | SLC34A1 |
is a | snp |
is | mentioned by |
dbSNP | rs201304511 |
dbSNP (classic) | rs201304511 |
ClinGen | rs201304511 |
ebi | rs201304511 |
HLI | rs201304511 |
Exac | rs201304511 |
Gnomad | rs201304511 |
Varsome | rs201304511 |
LitVar | rs201304511 |
Map | rs201304511 |
PheGenI | rs201304511 |
Biobank | rs201304511 |
1000 genomes | rs201304511 |
hgdp | rs201304511 |
ensembl | rs201304511 |
geneview | rs201304511 |
scholar | rs201304511 |
rs201304511 | |
pharmgkb | rs201304511 |
gwascentral | rs201304511 |
openSNP | rs201304511 |
23andMe | rs201304511 |
SNPshot | rs201304511 |
SNPdbe | rs201304511 |
MSV3d | rs201304511 |
GWAS Ctlg | rs201304511 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201304511(A;A) |
Alt | rs201304511(A;A) |
Reference | Rs201304511(G;G) |
Significance | Pathogenic |
Disease | Hypercalcemia |
Variation | info |
Gene | SLC34A1 |
CLNDBN | Hypercalcemia, infantile, 2 |
Reversed | 0 |
HGVS | NC_000005.9:g.176814875G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000223675.2, |