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Rs121908679

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908679(A;A)
Make rs121908679(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position22778837
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs121908679
PheGenIrs121908679
nextbiors121908679
hapmaprs121908679
1000 genomesrs121908679
hgdprs121908679
ensemblrs121908679
gopubmedrs121908679
geneviewrs121908679
scholarrs121908679
googlers121908679
pharmgkbrs121908679
gwascentralrs121908679
openSNPrs121908679
23andMers121908679
23andMe allrs121908679
SNP Nexus

SNPshotrs121908679
SNPdbers121908679
MSV3drs121908679
Max Magnitude0
OMIM603593
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908679(A;A)
Alt rs121908679(A;A)
Reference rs121908679(G;G)
Significance Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23248046C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006592.1,