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rs121908678

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908678(C;T)
Make rs121908678(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22774371
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs121908678
ebirs121908678
HLIrs121908678
Exacrs121908678
Varsomers121908678
Maprs121908678
PheGenIrs121908678
hapmaprs121908678
1000 genomesrs121908678
hgdprs121908678
ensemblrs121908678
gopubmedrs121908678
geneviewrs121908678
scholarrs121908678
googlers121908678
pharmgkbrs121908678
gwascentralrs121908678
openSNPrs121908678
23andMers121908678
23andMe allrs121908678
SNP Nexus

SNPshotrs121908678
SNPdbers121908678
MSV3drs121908678
GWAS Ctlgrs121908678
Max Magnitude0
OMIM603593
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908678(A,T;A,T)
Alt rs121908678(A,T;A,T)
Reference rs121908678(C;C)
Significance Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23243580G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006590.3,