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Rs121908677

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Orientationminus
is asnp
is mentioned by
dbSNPrs121908677
PheGenIrs121908677
nextbiors121908677
hapmaprs121908677
1000 genomesrs121908677
hgdprs121908677
ensemblrs121908677
gopubmedrs121908677
geneviewrs121908677
scholarrs121908677
googlers121908677
pharmgkbrs121908677
gwascentralrs121908677
openSNPrs121908677
23andMers121908677
23andMe allrs121908677
SNP Nexus

SNPshotrs121908677
SNPdbers121908677
MSV3drs121908677
GeneSLC7A7
Chromosome14
Orientationminus
Position22813238
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908677(G;T)
Make rs121908677(T;T)
OMIM603593
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908677(T;T)
Alt rs121908677(T;T)
Reference rs121908677(G;G)
Significance 5
Disease Lysinuric protein intolerance
ClinVar info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
CLNHGVS NC_000014.8:g.23282447C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006589.1