rs724159990

Orientation

plus

Stabilized

plus

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

Make rs724159990(C;T)

Make rs724159990(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

8768220

Gene

ABAT

is a	snp
is	mentioned by
dbSNP	rs724159990
ClinGen	rs724159990
ebi	rs724159990
HLI	rs724159990
Exac	rs724159990
Varsome	rs724159990
Map	rs724159990
PheGenI	rs724159990
hapmap	rs724159990
1000 genomes	rs724159990
hgdp	rs724159990
ensembl	rs724159990
gopubmed	rs724159990
geneview	rs724159990
scholar	rs724159990
google	rs724159990
pharmgkb	rs724159990
gwascentral	rs724159990
openSNP	rs724159990
23andMe	rs724159990
23andMe all	rs724159990
SNP Nexus
SNPshot	rs724159990
SNPdbe	rs724159990
MSV3d	rs724159990
GWAS Ctlg	rs724159990

Max Magnitude

0

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,