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rs386833819

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833819(C;T)
Make rs386833819(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22779988
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833819
ebirs386833819
HLIrs386833819
Exacrs386833819
Varsomers386833819
Maprs386833819
PheGenIrs386833819
hapmaprs386833819
1000 genomesrs386833819
hgdprs386833819
ensemblrs386833819
gopubmedrs386833819
geneviewrs386833819
scholarrs386833819
googlers386833819
pharmgkbrs386833819
gwascentralrs386833819
openSNPrs386833819
23andMers386833819
23andMe allrs386833819
SNP Nexus

SNPshotrs386833819
SNPdbers386833819
MSV3drs386833819
GWAS Ctlgrs386833819
Max Magnitude0
ClinVar
Risk rs386833819(T;T)
Alt rs386833819(T;T)
Reference rs386833819(C;C)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23249197G>A
CLNSRC ClinVar
CLNACC RCV000049784.1,


[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.