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rs386833820

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833820(A;G)
Make rs386833820(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position22779980
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833820
ebirs386833820
HLIrs386833820
Exacrs386833820
Varsomers386833820
Maprs386833820
PheGenIrs386833820
hapmaprs386833820
1000 genomesrs386833820
hgdprs386833820
ensemblrs386833820
gopubmedrs386833820
geneviewrs386833820
scholarrs386833820
googlers386833820
pharmgkbrs386833820
gwascentralrs386833820
openSNPrs386833820
23andMers386833820
23andMe allrs386833820
SNP Nexus

SNPshotrs386833820
SNPdbers386833820
MSV3drs386833820
GWAS Ctlgrs386833820
Max Magnitude0
ClinVar
Risk rs386833820(G;G)
Alt rs386833820(G;G)
Reference rs386833820(A;A)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23249189T>C
CLNSRC ClinVar
CLNACC RCV000049785.1,


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