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rs386833818

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833818(-;-)
Make rs386833818(-;T)
Make rs386833818(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22780005
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833818
ebirs386833818
HLIrs386833818
Exacrs386833818
Varsomers386833818
Maprs386833818
PheGenIrs386833818
hapmaprs386833818
1000 genomesrs386833818
hgdprs386833818
ensemblrs386833818
gopubmedrs386833818
geneviewrs386833818
scholarrs386833818
googlers386833818
pharmgkbrs386833818
gwascentralrs386833818
openSNPrs386833818
23andMers386833818
23andMe allrs386833818
SNP Nexus

SNPshotrs386833818
SNPdbers386833818
MSV3drs386833818
GWAS Ctlgrs386833818
Max Magnitude0
ClinVar
Risk rs386833818(T;T)
Alt rs386833818(T;T)
Reference rs386833818(;)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23249215dupA
CLNSRC ClinVar
CLNACC RCV000049783.1,


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