rs724159991

Orientation

plus

Stabilized

plus

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

Make rs724159991(C;C)

Make rs724159991(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

8781360

Gene

ABAT

is a	snp
is	mentioned by
dbSNP	rs724159991
dbSNP (classic)	rs724159991
ClinGen	rs724159991
ebi	rs724159991
HLI	rs724159991
Exac	rs724159991
Gnomad	rs724159991
Varsome	rs724159991
LitVar	rs724159991
Map	rs724159991
PheGenI	rs724159991
Biobank	rs724159991
1000 genomes	rs724159991
hgdp	rs724159991
ensembl	rs724159991
geneview	rs724159991
scholar	rs724159991
google	rs724159991
pharmgkb	rs724159991
gwascentral	rs724159991
openSNP	rs724159991
23andMe	rs724159991
SNPshot	rs724159991
SNPdbe	rs724159991
MSV3d	rs724159991
GWAS Ctlg	rs724159991

Max Magnitude

0

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,