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rs386833812

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTCT;CTCT) 0 common in clinvar
Make rs386833812(-;-)
Make rs386833812(-;CTCT)
ReferenceGRCh38 38.1/141
Chromosome14
Position22813181
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833812
ebirs386833812
HLIrs386833812
Exacrs386833812
Varsomers386833812
Maprs386833812
PheGenIrs386833812
hapmaprs386833812
1000 genomesrs386833812
hgdprs386833812
ensemblrs386833812
gopubmedrs386833812
geneviewrs386833812
scholarrs386833812
googlers386833812
pharmgkbrs386833812
gwascentralrs386833812
openSNPrs386833812
23andMers386833812
23andMe allrs386833812
SNP Nexus

SNPshotrs386833812
SNPdbers386833812
MSV3drs386833812
GWAS Ctlgrs386833812
Max Magnitude0
ClinVar
Risk rs386833812(;)
Alt rs386833812(;)
Reference rs386833812(CTCT;CTCT)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23282390_23282393delAGAG
CLNSRC ClinVar
CLNACC RCV000049777.1,


[PMID 10631139OA-icon.png] Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.