rs386833810
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs386833810(C;C) |
Make rs386833810(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 22773681 |
Gene | SLC7A7 |
is a | snp |
is | mentioned by |
dbSNP | rs386833810 |
dbSNP (classic) | rs386833810 |
ClinGen | rs386833810 |
ebi | rs386833810 |
HLI | rs386833810 |
Exac | rs386833810 |
Gnomad | rs386833810 |
Varsome | rs386833810 |
LitVar | rs386833810 |
Map | rs386833810 |
PheGenI | rs386833810 |
Biobank | rs386833810 |
1000 genomes | rs386833810 |
hgdp | rs386833810 |
ensembl | rs386833810 |
geneview | rs386833810 |
scholar | rs386833810 |
rs386833810 | |
pharmgkb | rs386833810 |
gwascentral | rs386833810 |
openSNP | rs386833810 |
23andMe | rs386833810 |
SNPshot | rs386833810 |
SNPdbe | rs386833810 |
MSV3d | rs386833810 |
GWAS Ctlg | rs386833810 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833810(C;C) |
Alt | rs386833810(C;C) |
Reference | Rs386833810(T;T) |
Significance | Probable-Pathogenic |
Disease | Lysinuric protein intolerance |
Variation | info |
Gene | SLC7A7 |
CLNDBN | Lysinuric protein intolerance |
Reversed | 1 |
HGVS | NC_000014.8:g.23242890A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000049775.1, |
[PMID 12402335] Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.