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rs386833795

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833795(A;A)
Make rs386833795(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position22775526
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833795
ebirs386833795
HLIrs386833795
Exacrs386833795
Varsomers386833795
Maprs386833795
PheGenIrs386833795
hapmaprs386833795
1000 genomesrs386833795
hgdprs386833795
ensemblrs386833795
gopubmedrs386833795
geneviewrs386833795
scholarrs386833795
googlers386833795
pharmgkbrs386833795
gwascentralrs386833795
openSNPrs386833795
23andMers386833795
23andMe allrs386833795
SNP Nexus

SNPshotrs386833795
SNPdbers386833795
MSV3drs386833795
GWAS Ctlgrs386833795
Max Magnitude0
ClinVar
Risk rs386833795(A;A)
Alt rs386833795(A;A)
Reference rs386833795(G;G)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23244735C>T
CLNSRC ClinVar
CLNACC RCV000049760.1,


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