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rs386833802

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833802(C;C)
Make rs386833802(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22774089
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833802
ebirs386833802
HLIrs386833802
Exacrs386833802
Varsomers386833802
Maprs386833802
PheGenIrs386833802
hapmaprs386833802
1000 genomesrs386833802
hgdprs386833802
ensemblrs386833802
gopubmedrs386833802
geneviewrs386833802
scholarrs386833802
googlers386833802
pharmgkbrs386833802
gwascentralrs386833802
openSNPrs386833802
23andMers386833802
23andMe allrs386833802
SNP Nexus

SNPshotrs386833802
SNPdbers386833802
MSV3drs386833802
GWAS Ctlgrs386833802
Max Magnitude0
ClinVar
Risk rs386833802(C;C)
Alt rs386833802(C;C)
Reference rs386833802(T;T)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23243298A>G
CLNSRC ClinVar
CLNACC RCV000049767.1,


[PMID 18716612OA-icon.png] Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.