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rs386833824

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833824(G;T)
Make rs386833824(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22778810
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833824
ebirs386833824
HLIrs386833824
Exacrs386833824
Varsomers386833824
Maprs386833824
PheGenIrs386833824
hapmaprs386833824
1000 genomesrs386833824
hgdprs386833824
ensemblrs386833824
gopubmedrs386833824
geneviewrs386833824
scholarrs386833824
googlers386833824
pharmgkbrs386833824
gwascentralrs386833824
openSNPrs386833824
23andMers386833824
23andMe allrs386833824
SNP Nexus

SNPshotrs386833824
SNPdbers386833824
MSV3drs386833824
GWAS Ctlgrs386833824
Max Magnitude0
ClinVar
Risk rs386833824(T;T)
Alt rs386833824(T;T)
Reference rs386833824(G;G)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23248019C>A
CLNSRC ClinVar
CLNACC RCV000049790.1,


[PMID 17764084] Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.