Rs121434578

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434578(A;A)
Make rs121434578(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position8768248
GeneABAT
is asnp
is mentioned by
dbSNPrs121434578
Exacrs121434578
PheGenIrs121434578
nextbiors121434578
hapmaprs121434578
1000 genomesrs121434578
hgdprs121434578
ensemblrs121434578
gopubmedrs121434578
geneviewrs121434578
scholarrs121434578
googlers121434578
pharmgkbrs121434578
gwascentralrs121434578
openSNPrs121434578
23andMers121434578
23andMe allrs121434578
SNP Nexus

SNPshotrs121434578
SNPdbers121434578
MSV3drs121434578
OMIM137150
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434578(A;A)
Alt rs121434578(A;A)
Reference rs121434578(G;G)
Significance Pathogenic
Disease Gamma-aminobutyric acid transaminase deficiency
Variation info
Gene ABAT
CLNDBN Gamma-aminobutyric acid transaminase deficiency
Reversed 0
HGVS NC_000016.9:g.8862105G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017603.26,