rs121434578

Orientation

plus

Stabilized

plus

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

Make rs121434578(A;A)

Make rs121434578(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8768248

Gene

ABAT

is a	snp
is	mentioned by
dbSNP	rs121434578
dbSNP (classic)	rs121434578
ClinGen	rs121434578
ebi	rs121434578
HLI	rs121434578
Exac	rs121434578
Gnomad	rs121434578
Varsome	rs121434578
LitVar	rs121434578
Map	rs121434578
PheGenI	rs121434578
Biobank	rs121434578
1000 genomes	rs121434578
hgdp	rs121434578
ensembl	rs121434578
geneview	rs121434578
scholar	rs121434578
google	rs121434578
pharmgkb	rs121434578
gwascentral	rs121434578
openSNP	rs121434578
23andMe	rs121434578
SNPshot	rs121434578
SNPdbe	rs121434578
MSV3d	rs121434578
GWAS Ctlg	rs121434578

Max Magnitude

0

OMIM	137150
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434578(A;A)
Alt	rs121434578(A;A)
Reference	Rs121434578(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.8862105G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017603.27,