rs28933977
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28933977(C;T) |
Make rs28933977(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 131884939 |
Gene | ENPP1 |
is a | snp |
is | mentioned by |
dbSNP | rs28933977 |
dbSNP (classic) | rs28933977 |
ClinGen | rs28933977 |
ebi | rs28933977 |
HLI | rs28933977 |
Exac | rs28933977 |
Gnomad | rs28933977 |
Varsome | rs28933977 |
LitVar | rs28933977 |
Map | rs28933977 |
PheGenI | rs28933977 |
Biobank | rs28933977 |
1000 genomes | rs28933977 |
hgdp | rs28933977 |
ensembl | rs28933977 |
geneview | rs28933977 |
scholar | rs28933977 |
rs28933977 | |
pharmgkb | rs28933977 |
gwascentral | rs28933977 |
openSNP | rs28933977 |
23andMe | rs28933977 |
SNPshot | rs28933977 |
SNPdbe | rs28933977 |
MSV3d | rs28933977 |
GWAS Ctlg | rs28933977 |
GMAF | 0.02433 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28933977(T;T) |
Alt | rs28933977(T;T) |
Reference | Rs28933977(C;C) |
Significance | Other |
Disease | Arterial calcification of infancy not specified Hypophosphatemic Rickets |
Variation | info |
Gene | ENPP1 |
CLNDBN | Arterial calcification of infancy not specified Hypophosphatemic Rickets, Recessive |
Reversed | 0 |
HGVS | NC_000006.11:g.132206079C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014555.3, RCV000176409.1, RCV000394923.1, |
[PMID 20137773] Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.