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rs386833814

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833814(C;C)
Make rs386833814(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22813028
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833814
ebirs386833814
HLIrs386833814
Exacrs386833814
Varsomers386833814
Maprs386833814
PheGenIrs386833814
hapmaprs386833814
1000 genomesrs386833814
hgdprs386833814
ensemblrs386833814
gopubmedrs386833814
geneviewrs386833814
scholarrs386833814
googlers386833814
pharmgkbrs386833814
gwascentralrs386833814
openSNPrs386833814
23andMers386833814
23andMe allrs386833814
SNP Nexus

SNPshotrs386833814
SNPdbers386833814
MSV3drs386833814
GWAS Ctlgrs386833814
Max Magnitude0
ClinVar
Risk rs386833814(C;C)
Alt rs386833814(C;C)
Reference rs386833814(T;T)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23282237A>G
CLNSRC ClinVar
CLNACC RCV000049779.1,


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


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