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rs724159992

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs724159992(A;A)
Make rs724159992(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position8750498
GeneABAT
is asnp
is mentioned by
dbSNPrs724159992
ClinGenrs724159992
ebirs724159992
HLIrs724159992
Exacrs724159992
Varsomers724159992
Maprs724159992
PheGenIrs724159992
hapmaprs724159992
1000 genomesrs724159992
hgdprs724159992
ensemblrs724159992
gopubmedrs724159992
geneviewrs724159992
scholarrs724159992
googlers724159992
pharmgkbrs724159992
gwascentralrs724159992
openSNPrs724159992
23andMers724159992
23andMe allrs724159992
SNP Nexus

SNPshotrs724159992
SNPdbers724159992
MSV3drs724159992
GWAS Ctlgrs724159992
Max Magnitude0
ClinVar
Risk rs724159992(A;A)
Alt rs724159992(A;A)
Reference Rs724159992(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.8844355G>A
CLNSRC
CLNACC RCV000149900.1,