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rs724159991

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs724159991(C;C)
Make rs724159991(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position8781360
GeneABAT
is asnp
is mentioned by
dbSNPrs724159991
ebirs724159991
HLIrs724159991
Exacrs724159991
Varsomers724159991
Maprs724159991
PheGenIrs724159991
hapmaprs724159991
1000 genomesrs724159991
hgdprs724159991
ensemblrs724159991
gopubmedrs724159991
geneviewrs724159991
scholarrs724159991
googlers724159991
pharmgkbrs724159991
gwascentralrs724159991
openSNPrs724159991
23andMers724159991
23andMe allrs724159991
SNP Nexus

SNPshotrs724159991
SNPdbers724159991
MSV3drs724159991
GWAS Ctlgrs724159991
Max Magnitude0
ClinVar
Risk rs724159991(C;C)
Alt rs724159991(C;C)
Reference rs724159991(T;T)
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.8875217T>C
CLNSRC
CLNACC RCV000149899.1,