rs587776696
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587776696(-;-) |
Make rs587776696(-;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 87662140 |
Gene | DMP1, LOC105377323 |
is a | snp |
is | mentioned by |
dbSNP | rs587776696 |
dbSNP (classic) | rs587776696 |
ClinGen | rs587776696 |
ebi | rs587776696 |
HLI | rs587776696 |
Exac | rs587776696 |
Gnomad | rs587776696 |
Varsome | rs587776696 |
LitVar | rs587776696 |
Map | rs587776696 |
PheGenI | rs587776696 |
Biobank | rs587776696 |
1000 genomes | rs587776696 |
hgdp | rs587776696 |
ensembl | rs587776696 |
geneview | rs587776696 |
scholar | rs587776696 |
rs587776696 | |
pharmgkb | rs587776696 |
gwascentral | rs587776696 |
openSNP | rs587776696 |
23andMe | rs587776696 |
SNPshot | rs587776696 |
SNPdbe | rs587776696 |
MSV3d | rs587776696 |
GWAS Ctlg | rs587776696 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776696(-;-) |
Alt | rs587776696(-;-) |
Reference | Rs587776696(C;C) |
Significance | Pathogenic |
Disease | Autosomal recessive hypophosphatemic vitamin D refractory rickets |
Variation | info |
Gene | DMP1 |
CLNDBN | Autosomal recessive hypophosphatemic vitamin D refractory rickets |
Reversed | 0 |
HGVS | NC_000004.11:g.88583292delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009104.4, |