rs121918238
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918238(C;T) |
Make rs121918238(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 137236018 |
Gene | SLC34A3 |
is a | snp |
is | mentioned by |
dbSNP | rs121918238 |
dbSNP (classic) | rs121918238 |
ClinGen | rs121918238 |
ebi | rs121918238 |
HLI | rs121918238 |
Exac | rs121918238 |
Gnomad | rs121918238 |
Varsome | rs121918238 |
LitVar | rs121918238 |
Map | rs121918238 |
PheGenI | rs121918238 |
Biobank | rs121918238 |
1000 genomes | rs121918238 |
hgdp | rs121918238 |
ensembl | rs121918238 |
geneview | rs121918238 |
scholar | rs121918238 |
rs121918238 | |
pharmgkb | rs121918238 |
gwascentral | rs121918238 |
openSNP | rs121918238 |
23andMe | rs121918238 |
SNPshot | rs121918238 |
SNPdbe | rs121918238 |
MSV3d | rs121918238 |
GWAS Ctlg | rs121918238 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918238(A;A) rs121918238(T;T) |
Alt | rs121918238(A;A) rs121918238(T;T) |
Reference | Rs121918238(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.140130470C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001497.3, |