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rs386833806

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833806(-;-)
Make rs386833806(-;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position22773975
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833806
ebirs386833806
HLIrs386833806
Exacrs386833806
Varsomers386833806
Maprs386833806
PheGenIrs386833806
hapmaprs386833806
1000 genomesrs386833806
hgdprs386833806
ensemblrs386833806
gopubmedrs386833806
geneviewrs386833806
scholarrs386833806
googlers386833806
pharmgkbrs386833806
gwascentralrs386833806
openSNPrs386833806
23andMers386833806
23andMe allrs386833806
SNP Nexus

SNPshotrs386833806
SNPdbers386833806
MSV3drs386833806
GWAS Ctlgrs386833806
Max Magnitude0
ClinVar
Risk rs386833806(;)
Alt rs386833806(;)
Reference rs386833806(G;G)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23243184delC
CLNSRC ClinVar
CLNACC RCV000049771.1,


[PMID 12402335] Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.