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rs121434347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434347(C;T)
Make rs121434347(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position1213517
GeneSLC6A19
is asnp
is mentioned by
dbSNPrs121434347
ebirs121434347
HLIrs121434347
Exacrs121434347
Varsomers121434347
Maprs121434347
PheGenIrs121434347
hapmaprs121434347
1000 genomesrs121434347
hgdprs121434347
ensemblrs121434347
gopubmedrs121434347
geneviewrs121434347
scholarrs121434347
googlers121434347
pharmgkbrs121434347
gwascentralrs121434347
openSNPrs121434347
23andMers121434347
23andMe allrs121434347
SNP Nexus

SNPshotrs121434347
SNPdbers121434347
MSV3drs121434347
GWAS Ctlgrs121434347
Max Magnitude0
OMIM608893
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434347(T;T)
Alt rs121434347(T;T)
Reference rs121434347(C;C)
Significance Pathogenic
Disease Neutral 1 amino acid transport defect
Variation info
Gene SLC6A19
CLNDBN Neutral 1 amino acid transport defect
Reversed 0
HGVS NC_000005.9:g.1213632C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002097.2,