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rs386833793

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833793(C;T)
Make rs386833793(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22813241
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833793
ebirs386833793
HLIrs386833793
Exacrs386833793
Varsomers386833793
Maprs386833793
PheGenIrs386833793
hapmaprs386833793
1000 genomesrs386833793
hgdprs386833793
ensemblrs386833793
gopubmedrs386833793
geneviewrs386833793
scholarrs386833793
googlers386833793
pharmgkbrs386833793
gwascentralrs386833793
openSNPrs386833793
23andMers386833793
23andMe allrs386833793
SNP Nexus

SNPshotrs386833793
SNPdbers386833793
MSV3drs386833793
GWAS Ctlgrs386833793
Max Magnitude0
ClinVar
Risk rs386833793(T;T)
Alt rs386833793(T;T)
Reference rs386833793(C;C)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23282450G>A
CLNSRC ClinVar
CLNACC RCV000049758.1,


[PMID 17764084] Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.