rs11568437
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs11568437(C;T) |
Make rs11568437(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 22812924 |
Gene | SLC7A7 |
is a | snp |
is | mentioned by |
dbSNP | rs11568437 |
dbSNP (classic) | rs11568437 |
ClinGen | rs11568437 |
ebi | rs11568437 |
HLI | rs11568437 |
Exac | rs11568437 |
Gnomad | rs11568437 |
Varsome | rs11568437 |
LitVar | rs11568437 |
Map | rs11568437 |
PheGenI | rs11568437 |
Biobank | rs11568437 |
1000 genomes | rs11568437 |
hgdp | rs11568437 |
ensembl | rs11568437 |
geneview | rs11568437 |
scholar | rs11568437 |
rs11568437 | |
pharmgkb | rs11568437 |
gwascentral | rs11568437 |
openSNP | rs11568437 |
23andMe | rs11568437 |
SNPshot | rs11568437 |
SNPdbe | rs11568437 |
MSV3d | rs11568437 |
GWAS Ctlg | rs11568437 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs11568437(A;A) rs11568437(T;T) |
Alt | rs11568437(A;A) rs11568437(T;T) |
Reference | Rs11568437(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Lysinuric protein intolerance |
Variation | info |
Gene | SLC7A7 |
CLNDBN | not provided Lysinuric protein intolerance |
Reversed | 1 |
HGVS | NC_000014.8:g.23282133G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000186169.1, RCV000279372.1, |