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rs386833828

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833828(G;T)
Make rs386833828(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22775832
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833828
ebirs386833828
HLIrs386833828
Exacrs386833828
Varsomers386833828
Maprs386833828
PheGenIrs386833828
hapmaprs386833828
1000 genomesrs386833828
hgdprs386833828
ensemblrs386833828
gopubmedrs386833828
geneviewrs386833828
scholarrs386833828
googlers386833828
pharmgkbrs386833828
gwascentralrs386833828
openSNPrs386833828
23andMers386833828
23andMe allrs386833828
SNP Nexus

SNPshotrs386833828
SNPdbers386833828
MSV3drs386833828
GWAS Ctlgrs386833828
Max Magnitude0
ClinVar
Risk rs386833828(T;T)
Alt rs386833828(T;T)
Reference rs386833828(G;G)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23245041C>A
CLNSRC ClinVar
CLNACC RCV000049795.1,


[PMID 12402335] Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.