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rs724159990

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159990(C;T)
Make rs724159990(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position8768220
GeneABAT
is asnp
is mentioned by
dbSNPrs724159990
ebirs724159990
HLIrs724159990
Exacrs724159990
Varsomers724159990
Maprs724159990
PheGenIrs724159990
hapmaprs724159990
1000 genomesrs724159990
hgdprs724159990
ensemblrs724159990
gopubmedrs724159990
geneviewrs724159990
scholarrs724159990
googlers724159990
pharmgkbrs724159990
gwascentralrs724159990
openSNPrs724159990
23andMers724159990
23andMe allrs724159990
SNP Nexus

SNPshotrs724159990
SNPdbers724159990
MSV3drs724159990
GWAS Ctlgrs724159990
Max Magnitude0
ClinVar
Risk rs724159990(T;T)
Alt rs724159990(T;T)
Reference rs724159990(C;C)
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.8862077C>T
CLNSRC
CLNACC RCV000149898.1,