rs1060499697
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1060499697(C;T) |
Make rs1060499697(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 137234670 |
Gene | SLC34A3 |
is a | snp |
is | mentioned by |
dbSNP | rs1060499697 |
dbSNP (classic) | rs1060499697 |
ClinGen | rs1060499697 |
ebi | rs1060499697 |
HLI | rs1060499697 |
Exac | rs1060499697 |
Gnomad | rs1060499697 |
Varsome | rs1060499697 |
LitVar | rs1060499697 |
Map | rs1060499697 |
PheGenI | rs1060499697 |
Biobank | rs1060499697 |
1000 genomes | rs1060499697 |
hgdp | rs1060499697 |
ensembl | rs1060499697 |
geneview | rs1060499697 |
scholar | rs1060499697 |
rs1060499697 | |
pharmgkb | rs1060499697 |
gwascentral | rs1060499697 |
openSNP | rs1060499697 |
23andMe | rs1060499697 |
SNPshot | rs1060499697 |
SNPdbe | rs1060499697 |
MSV3d | rs1060499697 |
GWAS Ctlg | rs1060499697 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060499697(T;T) |
Alt | rs1060499697(T;T) |
Reference | Rs1060499697(C;C) |
Significance | Probable-Pathogenic |
Disease | Autosomal recessive hypophosphatemic bone disease |
Variation | info |
Gene | SLC34A3 |
CLNDBN | Autosomal recessive hypophosphatemic bone disease |
Reversed | 0 |
HGVS | NC_000009.11:g.140129122C>T |
CLNSRC | |
CLNACC | RCV000449572.1, |