rs431905514

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

1416097

Gene

SLC6A3

is a	snp
is	mentioned by
dbSNP	rs431905514
dbSNP (classic)	rs431905514
ClinGen	rs431905514
ebi	rs431905514
HLI	rs431905514
Exac	rs431905514
Gnomad	rs431905514
Varsome	rs431905514
LitVar	rs431905514
Map	rs431905514
PheGenI	rs431905514
Biobank	rs431905514
1000 genomes	rs431905514
hgdp	rs431905514
ensembl	rs431905514
geneview	rs431905514
scholar	rs431905514
google	rs431905514
pharmgkb	rs431905514
gwascentral	rs431905514
openSNP	rs431905514
23andMe	rs431905514
SNPshot	rs431905514
SNPdbe	rs431905514
MSV3d	rs431905514
GWAS Ctlg	rs431905514

Max Magnitude

8

c.1031+1G>A

ClinVar
Risk	Rs431905514(A;A)
Alt	Rs431905514(A;A)
Reference	Rs431905514(G;G)
Significance	Pathogenic
Disease	Infantile Parkinsonism-dystonia
Variation	info
Gene	SLC6A3
CLNDBN	Infantile Parkinsonism-dystonia
Reversed	1
HGVS	NC_000005.9:g.1416212C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083262.4,