rs769409705
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs769409705(G;T) |
Make rs769409705(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 177386492 |
Gene | SLC34A1 |
is a | snp |
is | mentioned by |
dbSNP | rs769409705 |
dbSNP (classic) | rs769409705 |
ClinGen | rs769409705 |
ebi | rs769409705 |
HLI | rs769409705 |
Exac | rs769409705 |
Gnomad | rs769409705 |
Varsome | rs769409705 |
LitVar | rs769409705 |
Map | rs769409705 |
PheGenI | rs769409705 |
Biobank | rs769409705 |
1000 genomes | rs769409705 |
hgdp | rs769409705 |
ensembl | rs769409705 |
geneview | rs769409705 |
scholar | rs769409705 |
rs769409705 | |
pharmgkb | rs769409705 |
gwascentral | rs769409705 |
openSNP | rs769409705 |
23andMe | rs769409705 |
SNPshot | rs769409705 |
SNPdbe | rs769409705 |
MSV3d | rs769409705 |
GWAS Ctlg | rs769409705 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769409705(C;C) rs769409705(T;T) |
Alt | rs769409705(C;C) rs769409705(T;T) |
Reference | Rs769409705(G;G) |
Significance | Pathogenic |
Disease | Hypercalcemia |
Variation | info |
Gene | SLC34A1 |
CLNDBN | Hypercalcemia, infantile, 2 |
Reversed | 0 |
HGVS | NC_000005.9:g.176813493G>C; NC_000005.9:g.176813493G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000223665.2, RCV000223664.2, |