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rs146582474

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs146582474(A;A)
Make rs146582474(A;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22775938
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs146582474
ebirs146582474
HLIrs146582474
Exacrs146582474
Varsomers146582474
Maprs146582474
PheGenIrs146582474
hapmaprs146582474
1000 genomesrs146582474
hgdprs146582474
ensemblrs146582474
gopubmedrs146582474
geneviewrs146582474
scholarrs146582474
googlers146582474
pharmgkbrs146582474
gwascentralrs146582474
openSNPrs146582474
23andMers146582474
23andMe allrs146582474
SNP Nexus

SNPshotrs146582474
SNPdbers146582474
MSV3drs146582474
GWAS Ctlgrs146582474
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs146582474(A,C;A,C)
Alt rs146582474(A,C;A,C)
Reference rs146582474(T;T)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 0
HGVS NC_000014.8:g.23245147T>C
CLNSRC ClinVar
CLNACC RCV000049794.1,


[PMID 17666782] First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.