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rs386833809

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833809(-;-)
Make rs386833809(-;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position22773686
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833809
ebirs386833809
HLIrs386833809
Exacrs386833809
Varsomers386833809
Maprs386833809
PheGenIrs386833809
hapmaprs386833809
1000 genomesrs386833809
hgdprs386833809
ensemblrs386833809
gopubmedrs386833809
geneviewrs386833809
scholarrs386833809
googlers386833809
pharmgkbrs386833809
gwascentralrs386833809
openSNPrs386833809
23andMers386833809
23andMe allrs386833809
SNP Nexus

SNPshotrs386833809
SNPdbers386833809
MSV3drs386833809
GWAS Ctlgrs386833809
Max Magnitude0
ClinVar
Risk rs386833809(;)
Alt rs386833809(;)
Reference rs386833809(G;G)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23242895delC
CLNSRC ClinVar
CLNACC RCV000049774.1,


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