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rs11568437

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11568437(C;T)
Make rs11568437(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position22812924
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs11568437
dbSNP (classic)rs11568437
ClinGenrs11568437
ebirs11568437
HLIrs11568437
Exacrs11568437
Gnomadrs11568437
Varsomers11568437
LitVarrs11568437
Maprs11568437
PheGenIrs11568437
Biobankrs11568437
1000 genomesrs11568437
hgdprs11568437
ensemblrs11568437
geneviewrs11568437
scholarrs11568437
googlers11568437
pharmgkbrs11568437
gwascentralrs11568437
openSNPrs11568437
23andMers11568437
SNPshotrs11568437
SNPdbers11568437
MSV3drs11568437
GWAS Ctlgrs11568437
Max Magnitude0
ClinVar
Risk rs11568437(A;A) rs11568437(T;T)
Alt rs11568437(A;A) rs11568437(T;T)
Reference Rs11568437(C;C)
Significance Probable-Pathogenic
Disease not provided Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN not provided Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23282133G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000186169.1, RCV000279372.1,