Rs121908676

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Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908676(A;C)
Make rs121908676(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position22813398
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs121908676
Exacrs121908676
PheGenIrs121908676
nextbiors121908676
hapmaprs121908676
1000 genomesrs121908676
hgdprs121908676
ensemblrs121908676
gopubmedrs121908676
geneviewrs121908676
scholarrs121908676
googlers121908676
pharmgkbrs121908676
gwascentralrs121908676
openSNPrs121908676
23andMers121908676
23andMe allrs121908676
SNP Nexus

SNPshotrs121908676
SNPdbers121908676
MSV3drs121908676
OMIM603593
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908676(C;C)
Alt rs121908676(C;C)
Reference rs121908676(A;A)
Significance Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23282607T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006586.1,