rs28937882
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | Autosomal dominant hypophosphatemic rickets (predicted) |
Make rs28937882(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 4370564 |
Gene | FGF23 |
is a | snp |
is | mentioned by |
dbSNP | rs28937882 |
dbSNP (classic) | rs28937882 |
ClinGen | rs28937882 |
ebi | rs28937882 |
HLI | rs28937882 |
Exac | rs28937882 |
Gnomad | rs28937882 |
Varsome | rs28937882 |
LitVar | rs28937882 |
Map | rs28937882 |
PheGenI | rs28937882 |
Biobank | rs28937882 |
1000 genomes | rs28937882 |
hgdp | rs28937882 |
ensembl | rs28937882 |
geneview | rs28937882 |
scholar | rs28937882 |
rs28937882 | |
pharmgkb | rs28937882 |
gwascentral | rs28937882 |
openSNP | rs28937882 |
23andMe | rs28937882 |
SNPshot | rs28937882 |
SNPdbe | rs28937882 |
MSV3d | rs28937882 |
GWAS Ctlg | rs28937882 |
Max Magnitude | 5 |
aka c.535C>T (p.Arg179Trp or R179W)
ClinVar | |
---|---|
Risk | rs28937882(A;A) rs28937882(T;T) |
Alt | rs28937882(A;A) rs28937882(T;T) |
Reference | Rs28937882(C;C) |
Significance | Pathogenic |
Disease | Autosomal dominant hypophosphatemic rickets not provided |
Variation | info |
Gene | FGF23 |
CLNDBN | Autosomal dominant hypophosphatemic rickets not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.4479730G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005329.2, RCV000424624.1, |