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rs386833826

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833826(-;-)
Make rs386833826(-;T)
Make rs386833826(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22776268
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833826
ebirs386833826
HLIrs386833826
Exacrs386833826
Varsomers386833826
Maprs386833826
PheGenIrs386833826
hapmaprs386833826
1000 genomesrs386833826
hgdprs386833826
ensemblrs386833826
gopubmedrs386833826
geneviewrs386833826
scholarrs386833826
googlers386833826
pharmgkbrs386833826
gwascentralrs386833826
openSNPrs386833826
23andMers386833826
23andMe allrs386833826
SNP Nexus

SNPshotrs386833826
SNPdbers386833826
MSV3drs386833826
GWAS Ctlgrs386833826
Max Magnitude0
ClinVar
Risk rs386833826(T;T)
Alt rs386833826(T;T)
Reference rs386833826(;)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23245478dupA
CLNSRC ClinVar
CLNACC RCV000049792.1,


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