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rs386833808

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833808(C;T)
Make rs386833808(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22773945
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833808
ebirs386833808
HLIrs386833808
Exacrs386833808
Varsomers386833808
Maprs386833808
PheGenIrs386833808
hapmaprs386833808
1000 genomesrs386833808
hgdprs386833808
ensemblrs386833808
gopubmedrs386833808
geneviewrs386833808
scholarrs386833808
googlers386833808
pharmgkbrs386833808
gwascentralrs386833808
openSNPrs386833808
23andMers386833808
23andMe allrs386833808
SNP Nexus

SNPshotrs386833808
SNPdbers386833808
MSV3drs386833808
GWAS Ctlgrs386833808
Max Magnitude0
ClinVar
Risk rs386833808(T;T)
Alt rs386833808(T;T)
Reference rs386833808(C;C)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23243154G>A
CLNSRC ClinVar
CLNACC RCV000049773.1,


[PMID 10655553] Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).