Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833804

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833804(A;A)
Make rs386833804(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position22773991
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833804
ebirs386833804
HLIrs386833804
Exacrs386833804
Varsomers386833804
Maprs386833804
PheGenIrs386833804
hapmaprs386833804
1000 genomesrs386833804
hgdprs386833804
ensemblrs386833804
gopubmedrs386833804
geneviewrs386833804
scholarrs386833804
googlers386833804
pharmgkbrs386833804
gwascentralrs386833804
openSNPrs386833804
23andMers386833804
23andMe allrs386833804
SNP Nexus

SNPshotrs386833804
SNPdbers386833804
MSV3drs386833804
GWAS Ctlgrs386833804
Max Magnitude0
ClinVar
Risk rs386833804(A,G;A,G)
Alt rs386833804(A,G;A,G)
Reference rs386833804(C;C)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23243200G>T
CLNSRC ClinVar
CLNACC RCV000049769.1,


[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.


[PMID 18716612OA-icon.png] Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.