rs3819331

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	2	increased risk of autism
(C;T)	2	increased risk of autism
(T;T)	2	lower risk of autism

Reference

GRCh38 38.1/141

Chromosome

11

Position

112228687

Gene

PTS

is a	snp
is	mentioned by
dbSNP	rs3819331
dbSNP (classic)	rs3819331
ClinGen	rs3819331
ebi	rs3819331
HLI	rs3819331
Exac	rs3819331
Gnomad	rs3819331
Varsome	rs3819331
LitVar	rs3819331
Map	rs3819331
PheGenI	rs3819331
Biobank	rs3819331
1000 genomes	rs3819331
hgdp	rs3819331
ensembl	rs3819331
geneview	rs3819331
scholar	rs3819331
google	rs3819331
pharmgkb	rs3819331
gwascentral	rs3819331
openSNP	rs3819331
23andMe	rs3819331
SNPshot	rs3819331
SNPdbe	rs3819331
MSV3d	rs3819331
GWAS Ctlg	rs3819331

GMAF

0.1377

Max Magnitude

2

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

Examination of tetrahydrobiopterin pathway genes in autism.[PMID 19674121]

Examination of association to autism of common genetic variation in genes related to dopamine.[PMID 19360691]

ClinVar
Risk	Rs3819331(C;C)
Alt	Rs3819331(C;C)
Reference	Rs3819331(T;T)
Significance	Non-pathogenic
Disease	6-pyruvoyl-tetrahydropterin synthase deficiency
Variation	info
Gene	PTS
CLNDBN	6-pyruvoyl-tetrahydropterin synthase deficiency
Reversed	0
HGVS	NC_000011.9:g.112099410T>C
CLNSRC
CLNACC	RCV000298411.1,