rs1731017

minus

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

Make rs1731017(C;C)

Make rs1731017(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8746097

Gene

ABAT

is a	snp
is	mentioned by
dbSNP	rs1731017
dbSNP (classic)	rs1731017
ClinGen	rs1731017
ebi	rs1731017
HLI	rs1731017
Exac	rs1731017
Gnomad	rs1731017
Varsome	rs1731017
LitVar	rs1731017
Map	rs1731017
PheGenI	rs1731017
Biobank	rs1731017
1000 genomes	rs1731017
hgdp	rs1731017
ensembl	rs1731017
geneview	rs1731017
scholar	rs1731017
google	rs1731017
pharmgkb	rs1731017
gwascentral	rs1731017
openSNP	rs1731017
23andMe	rs1731017
SNPshot	rs1731017
SNPdbe	rs1731017
MSV3d	rs1731017
GWAS Ctlg	rs1731017

GMAF

0.4513

Max Magnitude

0

?

(C;C) (C;T) (T;T)

28

[PMID 15830322 ] Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.

ClinVar
Risk	rs1731017(C;C)
Alt	rs1731017(C;C)
Reference	Rs1731017(T;T)
Significance	Non-pathogenic
Disease	Gamma-aminobutyric acid transaminase deficiency
Variation	info
Gene	ABAT
CLNDBN	Gamma-aminobutyric acid transaminase deficiency
Reversed	1
HGVS	NC_000016.9:g.8839954A>G
CLNSRC
CLNACC	RCV000342704.1,