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rs386833807

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833807(C;T)
Make rs386833807(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22773960
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833807
ebirs386833807
HLIrs386833807
Exacrs386833807
Varsomers386833807
Maprs386833807
PheGenIrs386833807
hapmaprs386833807
1000 genomesrs386833807
hgdprs386833807
ensemblrs386833807
gopubmedrs386833807
geneviewrs386833807
scholarrs386833807
googlers386833807
pharmgkbrs386833807
gwascentralrs386833807
openSNPrs386833807
23andMers386833807
23andMe allrs386833807
SNP Nexus

SNPshotrs386833807
SNPdbers386833807
MSV3drs386833807
GWAS Ctlgrs386833807
Max Magnitude0
ClinVar
Risk rs386833807(T;T)
Alt rs386833807(T;T)
Reference rs386833807(C;C)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23243169G>A
CLNSRC ClinVar
CLNACC RCV000049772.1,


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