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rs121434346

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434346(A;A)
Make rs121434346(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position1212338
GeneSLC6A19
is asnp
is mentioned by
dbSNPrs121434346
ebirs121434346
HLIrs121434346
Exacrs121434346
Varsomers121434346
Maprs121434346
PheGenIrs121434346
hapmaprs121434346
1000 genomesrs121434346
hgdprs121434346
ensemblrs121434346
gopubmedrs121434346
geneviewrs121434346
scholarrs121434346
googlers121434346
pharmgkbrs121434346
gwascentralrs121434346
openSNPrs121434346
23andMers121434346
23andMe allrs121434346
SNP Nexus

SNPshotrs121434346
SNPdbers121434346
MSV3drs121434346
GWAS Ctlgrs121434346
GMAF0.001837
Max Magnitude0
OMIM608893
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434346(A;A)
Alt rs121434346(A;A)
Reference rs121434346(G;G)
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.1212453G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002096.3,