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rs386833823

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833823(C;T)
Make rs386833823(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22778850
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833823
ebirs386833823
HLIrs386833823
Exacrs386833823
Varsomers386833823
Maprs386833823
PheGenIrs386833823
hapmaprs386833823
1000 genomesrs386833823
hgdprs386833823
ensemblrs386833823
gopubmedrs386833823
geneviewrs386833823
scholarrs386833823
googlers386833823
pharmgkbrs386833823
gwascentralrs386833823
openSNPrs386833823
23andMers386833823
23andMe allrs386833823
SNP Nexus

SNPshotrs386833823
SNPdbers386833823
MSV3drs386833823
GWAS Ctlgrs386833823
Max Magnitude0
ClinVar
Risk rs386833823(G,T;G,T)
Alt rs386833823(G,T;G,T)
Reference rs386833823(C;C)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23248059G>A
CLNSRC ClinVar
CLNACC RCV000049789.1,


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