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rs386833817

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833817(A;A)
Make rs386833817(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position22812899
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833817
ebirs386833817
HLIrs386833817
Exacrs386833817
Varsomers386833817
Maprs386833817
PheGenIrs386833817
hapmaprs386833817
1000 genomesrs386833817
hgdprs386833817
ensemblrs386833817
gopubmedrs386833817
geneviewrs386833817
scholarrs386833817
googlers386833817
pharmgkbrs386833817
gwascentralrs386833817
openSNPrs386833817
23andMers386833817
23andMe allrs386833817
SNP Nexus

SNPshotrs386833817
SNPdbers386833817
MSV3drs386833817
GWAS Ctlgrs386833817
Max Magnitude0
ClinVar
Risk rs386833817(A;A)
Alt rs386833817(A;A)
Reference rs386833817(G;G)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23282108C>T
CLNSRC ClinVar
CLNACC RCV000049782.1,


[PMID 10631139OA-icon.png] Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.


[PMID 11544277OA-icon.png] Vascular endothelial dysfunction resulting from L-arginine deficiency in a patient with lysinuric protein intolerance.