rs794729658
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794729658(-;-) |
Make rs794729658(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 137233924 |
Gene | SLC34A3 |
is a | snp |
is | mentioned by |
dbSNP | rs794729658 |
dbSNP (classic) | rs794729658 |
ClinGen | rs794729658 |
ebi | rs794729658 |
HLI | rs794729658 |
Exac | rs794729658 |
Gnomad | rs794729658 |
Varsome | rs794729658 |
LitVar | rs794729658 |
Map | rs794729658 |
PheGenI | rs794729658 |
Biobank | rs794729658 |
1000 genomes | rs794729658 |
hgdp | rs794729658 |
ensembl | rs794729658 |
geneview | rs794729658 |
scholar | rs794729658 |
rs794729658 | |
pharmgkb | rs794729658 |
gwascentral | rs794729658 |
openSNP | rs794729658 |
23andMe | rs794729658 |
SNPshot | rs794729658 |
SNPdbe | rs794729658 |
MSV3d | rs794729658 |
GWAS Ctlg | rs794729658 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729658(-;-) |
Alt | rs794729658(-;-) |
Reference | Rs794729658(C;C) |
Significance | Pathogenic |
Disease | Autosomal recessive hypophosphatemic bone disease |
Variation | info |
Gene | SLC34A3 |
CLNDBN | Autosomal recessive hypophosphatemic bone disease |
Reversed | 0 |
HGVS | NC_000009.11:g.140128376delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001491.3, |