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rs386833821

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833821(C;T)
Make rs386833821(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22779929
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833821
ebirs386833821
HLIrs386833821
Exacrs386833821
Varsomers386833821
Maprs386833821
PheGenIrs386833821
hapmaprs386833821
1000 genomesrs386833821
hgdprs386833821
ensemblrs386833821
gopubmedrs386833821
geneviewrs386833821
scholarrs386833821
googlers386833821
pharmgkbrs386833821
gwascentralrs386833821
openSNPrs386833821
23andMers386833821
23andMe allrs386833821
SNP Nexus

SNPshotrs386833821
SNPdbers386833821
MSV3drs386833821
GWAS Ctlgrs386833821
Max Magnitude0
ClinVar
Risk rs386833821(T;T)
Alt rs386833821(T;T)
Reference rs386833821(C;C)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23249138G>A
CLNSRC ClinVar
CLNACC RCV000049786.1,


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