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rs72552272

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72552272(G;G)
Make rs72552272(G;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22775538
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs72552272
ebirs72552272
HLIrs72552272
Exacrs72552272
Varsomers72552272
Maprs72552272
PheGenIrs72552272
hapmaprs72552272
1000 genomesrs72552272
hgdprs72552272
ensemblrs72552272
gopubmedrs72552272
geneviewrs72552272
scholarrs72552272
googlers72552272
pharmgkbrs72552272
gwascentralrs72552272
openSNPrs72552272
23andMers72552272
23andMe allrs72552272
SNP Nexus

SNPshotrs72552272
SNPdbers72552272
MSV3drs72552272
GWAS Ctlgrs72552272
Max Magnitude0
OMIM603593
Desc
Variant0005
Relatedalso


ClinVar
Risk rs72552272(G;G)
Alt rs72552272(G;G)
Reference rs72552272(T;T)
Significance Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23244747A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006587.3,