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rs386833797

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833797(A;T)
Make rs386833797(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22775446
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833797
ebirs386833797
HLIrs386833797
Exacrs386833797
Varsomers386833797
Maprs386833797
PheGenIrs386833797
hapmaprs386833797
1000 genomesrs386833797
hgdprs386833797
ensemblrs386833797
gopubmedrs386833797
geneviewrs386833797
scholarrs386833797
googlers386833797
pharmgkbrs386833797
gwascentralrs386833797
openSNPrs386833797
23andMers386833797
23andMe allrs386833797
SNP Nexus

SNPshotrs386833797
SNPdbers386833797
MSV3drs386833797
GWAS Ctlgrs386833797
Max Magnitude0
ClinVar
Risk rs386833797(T;T)
Alt rs386833797(T;T)
Reference rs386833797(A;A)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23244655T>A
CLNSRC ClinVar
CLNACC RCV000049762.1,


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