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rs386833792

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833792(C;T)
Make rs386833792(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22813385
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833792
ebirs386833792
HLIrs386833792
Exacrs386833792
Varsomers386833792
Maprs386833792
PheGenIrs386833792
hapmaprs386833792
1000 genomesrs386833792
hgdprs386833792
ensemblrs386833792
gopubmedrs386833792
geneviewrs386833792
scholarrs386833792
googlers386833792
pharmgkbrs386833792
gwascentralrs386833792
openSNPrs386833792
23andMers386833792
23andMe allrs386833792
SNP Nexus

SNPshotrs386833792
SNPdbers386833792
MSV3drs386833792
GWAS Ctlgrs386833792
Max Magnitude0
ClinVar
Risk rs386833792(T;T)
Alt rs386833792(T;T)
Reference rs386833792(C;C)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23282594G>A
CLNSRC ClinVar
CLNACC RCV000049757.1,


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