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rs386833803

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833803(-;-)
Make rs386833803(-;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position22774018
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833803
ebirs386833803
HLIrs386833803
Exacrs386833803
Varsomers386833803
Maprs386833803
PheGenIrs386833803
hapmaprs386833803
1000 genomesrs386833803
hgdprs386833803
ensemblrs386833803
gopubmedrs386833803
geneviewrs386833803
scholarrs386833803
googlers386833803
pharmgkbrs386833803
gwascentralrs386833803
openSNPrs386833803
23andMers386833803
23andMe allrs386833803
SNP Nexus

SNPshotrs386833803
SNPdbers386833803
MSV3drs386833803
GWAS Ctlgrs386833803
Max Magnitude0
ClinVar
Risk rs386833803(;)
Alt rs386833803(;)
Reference rs386833803(C;C)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23243227delG
CLNSRC ClinVar
CLNACC RCV000049768.1,


[PMID 12402335] Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.