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rs386833811

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833811(A;A)
Make rs386833811(A;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22813250
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833811
ebirs386833811
HLIrs386833811
Exacrs386833811
Varsomers386833811
Maprs386833811
PheGenIrs386833811
hapmaprs386833811
1000 genomesrs386833811
hgdprs386833811
ensemblrs386833811
gopubmedrs386833811
geneviewrs386833811
scholarrs386833811
googlers386833811
pharmgkbrs386833811
gwascentralrs386833811
openSNPrs386833811
23andMers386833811
23andMe allrs386833811
SNP Nexus

SNPshotrs386833811
SNPdbers386833811
MSV3drs386833811
GWAS Ctlgrs386833811
Max Magnitude0
ClinVar
Risk rs386833811(A;A)
Alt rs386833811(A;A)
Reference rs386833811(T;T)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23282459A>T
CLNSRC ClinVar
CLNACC RCV000049776.1,


[PMID 11377971] The molecular bases of cystinuria and lysinuric protein intolerance.


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