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rs386833810

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833810(C;C)
Make rs386833810(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22773681
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833810
ebirs386833810
HLIrs386833810
Exacrs386833810
Varsomers386833810
Maprs386833810
PheGenIrs386833810
hapmaprs386833810
1000 genomesrs386833810
hgdprs386833810
ensemblrs386833810
gopubmedrs386833810
geneviewrs386833810
scholarrs386833810
googlers386833810
pharmgkbrs386833810
gwascentralrs386833810
openSNPrs386833810
23andMers386833810
23andMe allrs386833810
SNP Nexus

SNPshotrs386833810
SNPdbers386833810
MSV3drs386833810
GWAS Ctlgrs386833810
Max Magnitude0
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 ClinVar
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.