rs301430

Orientation

plus

Stabilized

plus

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

Make rs301430(C;C)

Make rs301430(C;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

4576680

Gene	SLC1A1, SPATA6L

is a	snp
is	mentioned by
dbSNP	rs301430
dbSNP (classic)	rs301430
ClinGen	rs301430
ebi	rs301430
HLI	rs301430
Exac	rs301430
Gnomad	rs301430
Varsome	rs301430
LitVar	rs301430
Map	rs301430
PheGenI	rs301430
Biobank	rs301430
1000 genomes	rs301430
hgdp	rs301430
ensembl	rs301430
geneview	rs301430
scholar	rs301430
google	rs301430
pharmgkb	rs301430
gwascentral	rs301430
openSNP	rs301430
23andMe	rs301430
SNPshot	rs301430
SNPdbe	rs301430
MSV3d	rs301430
GWAS Ctlg	rs301430

GMAF

0.4486

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

[PMID 19349310] A haplotype containing quantitative trait loci for SLC1A1 gene expression and its association with obsessive-compulsive disorder

[PMID 20155310] Brief Report: Glutamate Transporter Gene (SLC1A1) Single Nucleotide Polymorphism (rs301430) and Repetitive Behaviors and Anxiety in Children with Autism Spectrum Disorder

[PMID 16818867] Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder.

[PMID 17894418] Association of the SLC1A1 glutamate transporter gene and obsessive-compulsive disorder.

[PMID 19360657] Family-Based Association Testing of OCD-associated SNPs of SLC1A1 in an autism sample.

[PMID 23564280] Association between SLC1A1 gene and early-onset OCD in the Han Chinese population: a case-control study.

[PMID 23411042] Association of the candidate gene SLC1A1 and obsessive-compulsive disorder in Han Chinese population

ClinVar
Risk	rs301430(C;C)
Alt	rs301430(C;C)
Reference	Rs301430(T;T)
Significance	Non-pathogenic
Disease	Dicarboxylic aminoaciduria
Variation	info
Gene	SPATA6L SLC1A1
CLNDBN	Dicarboxylic aminoaciduria
Reversed	0
HGVS	NC_000009.11:g.4576680T>C
CLNSRC
CLNACC	RCV000402585.1,