rs431905516

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of an infantile Parkinsonism-dystonia mutation
(T;T)	8	Infantile Parkinsonism-dystonia

Reference

GRCh38 38.1/142

Chromosome

5

Position

1406226

Gene

SLC6A3

is a	snp
is	mentioned by
dbSNP	rs431905516
dbSNP (classic)	rs431905516
ClinGen	rs431905516
ebi	rs431905516
HLI	rs431905516
Exac	rs431905516
Gnomad	rs431905516
Varsome	rs431905516
LitVar	rs431905516
Map	rs431905516
PheGenI	rs431905516
Biobank	rs431905516
1000 genomes	rs431905516
hgdp	rs431905516
ensembl	rs431905516
geneview	rs431905516
scholar	rs431905516
google	rs431905516
pharmgkb	rs431905516
gwascentral	rs431905516
openSNP	rs431905516
23andMe	rs431905516
SNPshot	rs431905516
SNPdbe	rs431905516
MSV3d	rs431905516
GWAS Ctlg	rs431905516

Max Magnitude

8

c.1561C>T (p.Arg521Trp)

ClinVar
Risk	Rs431905516(T;T)
Alt	Rs431905516(T;T)
Reference	Rs431905516(C;C)
Significance	Pathogenic
Disease	Infantile Parkinsonism-dystonia
Variation	info
Gene	SLC6A3
CLNDBN	Infantile Parkinsonism-dystonia
Reversed	1
HGVS	NC_000005.9:g.1406341G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083264.4,