rs431905504

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

5

Position

1411242

Gene

SLC6A3

is a	snp
is	mentioned by
dbSNP	rs431905504
dbSNP (classic)	rs431905504
ClinGen	rs431905504
ebi	rs431905504
HLI	rs431905504
Exac	rs431905504
Gnomad	rs431905504
Varsome	rs431905504
LitVar	rs431905504
Map	rs431905504
PheGenI	rs431905504
Biobank	rs431905504
1000 genomes	rs431905504
hgdp	rs431905504
ensembl	rs431905504
geneview	rs431905504
scholar	rs431905504
google	rs431905504
pharmgkb	rs431905504
gwascentral	rs431905504
openSNP	rs431905504
23andMe	rs431905504
SNPshot	rs431905504
SNPdbe	rs431905504
MSV3d	rs431905504
GWAS Ctlg	rs431905504

Max Magnitude

8

c.1269+1G>A

ClinVar
Risk	Rs431905504(A;A)
Alt	Rs431905504(A;A)
Reference	Rs431905504(G;G)
Significance	Pathogenic
Disease	Infantile Parkinsonism-dystonia not provided
Variation	info
Gene	SLC6A3
CLNDBN	Infantile Parkinsonism-dystonia not provided
Reversed	1
HGVS	NC_000005.9:g.1411357C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022531.29, RCV000493130.1,