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rs386833825

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833825(C;C)
Make rs386833825(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22776307
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833825
ebirs386833825
HLIrs386833825
Exacrs386833825
Varsomers386833825
Maprs386833825
PheGenIrs386833825
hapmaprs386833825
1000 genomesrs386833825
hgdprs386833825
ensemblrs386833825
gopubmedrs386833825
geneviewrs386833825
scholarrs386833825
googlers386833825
pharmgkbrs386833825
gwascentralrs386833825
openSNPrs386833825
23andMers386833825
23andMe allrs386833825
SNP Nexus

SNPshotrs386833825
SNPdbers386833825
MSV3drs386833825
GWAS Ctlgrs386833825
Max Magnitude0
ClinVar
Risk rs386833825(C;C)
Alt rs386833825(C;C)
Reference rs386833825(T;T)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23245516A>G
CLNSRC ClinVar
CLNACC RCV000049791.1,


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