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rs386833815

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833815(C;C)
Make rs386833815(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position22812981
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833815
ebirs386833815
HLIrs386833815
Exacrs386833815
Varsomers386833815
Maprs386833815
PheGenIrs386833815
hapmaprs386833815
1000 genomesrs386833815
hgdprs386833815
ensemblrs386833815
gopubmedrs386833815
geneviewrs386833815
scholarrs386833815
googlers386833815
pharmgkbrs386833815
gwascentralrs386833815
openSNPrs386833815
23andMers386833815
23andMe allrs386833815
SNP Nexus

SNPshotrs386833815
SNPdbers386833815
MSV3drs386833815
GWAS Ctlgrs386833815
Max Magnitude0
ClinVar
Risk rs386833815(C;C)
Alt rs386833815(C;C)
Reference rs386833815(G;G)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23282190C>G
CLNSRC ClinVar
CLNACC RCV000049780.1,


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