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rs386833829

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833829(G;T)
Make rs386833829(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22775833
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833829
ebirs386833829
HLIrs386833829
Exacrs386833829
Varsomers386833829
Maprs386833829
PheGenIrs386833829
hapmaprs386833829
1000 genomesrs386833829
hgdprs386833829
ensemblrs386833829
gopubmedrs386833829
geneviewrs386833829
scholarrs386833829
googlers386833829
pharmgkbrs386833829
gwascentralrs386833829
openSNPrs386833829
23andMers386833829
23andMe allrs386833829
SNP Nexus

SNPshotrs386833829
SNPdbers386833829
MSV3drs386833829
GWAS Ctlgrs386833829
Max Magnitude0
ClinVar
Risk rs386833829(T;T)
Alt rs386833829(T;T)
Reference rs386833829(G;G)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23245042C>A
CLNSRC ClinVar
CLNACC RCV000049796.1,


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