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rs386833799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833799(A;A)
Make rs386833799(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position22774441
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833799
ebirs386833799
HLIrs386833799
Exacrs386833799
Varsomers386833799
Maprs386833799
PheGenIrs386833799
hapmaprs386833799
1000 genomesrs386833799
hgdprs386833799
ensemblrs386833799
gopubmedrs386833799
geneviewrs386833799
scholarrs386833799
googlers386833799
pharmgkbrs386833799
gwascentralrs386833799
openSNPrs386833799
23andMers386833799
23andMe allrs386833799
SNP Nexus

SNPshotrs386833799
SNPdbers386833799
MSV3drs386833799
GWAS Ctlgrs386833799
Max Magnitude0
ClinVar
Risk rs386833799(A;A)
Alt rs386833799(A;A)
Reference rs386833799(C;C)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23243650G>T
CLNSRC ClinVar
CLNACC RCV000049764.1,


[PMID 10631139OA-icon.png] Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.


[PMID 15776427] Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.