rs724159992

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs724159992(A;A)

Make rs724159992(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

8750498

Gene

ABAT

is a	snp
is	mentioned by
dbSNP	rs724159992
dbSNP (classic)	rs724159992
ClinGen	rs724159992
ebi	rs724159992
HLI	rs724159992
Exac	rs724159992
Gnomad	rs724159992
Varsome	rs724159992
LitVar	rs724159992
Map	rs724159992
PheGenI	rs724159992
Biobank	rs724159992
1000 genomes	rs724159992
hgdp	rs724159992
ensembl	rs724159992
geneview	rs724159992
scholar	rs724159992
google	rs724159992
pharmgkb	rs724159992
gwascentral	rs724159992
openSNP	rs724159992
23andMe	rs724159992
SNPshot	rs724159992
SNPdbe	rs724159992
MSV3d	rs724159992
GWAS Ctlg	rs724159992

Max Magnitude

0

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,