rs431905515

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

5

Position

1421997

Gene

SLC6A3

is a	snp
is	mentioned by
dbSNP	rs431905515
dbSNP (classic)	rs431905515
ClinGen	rs431905515
ebi	rs431905515
HLI	rs431905515
Exac	rs431905515
Gnomad	rs431905515
Varsome	rs431905515
LitVar	rs431905515
Map	rs431905515
PheGenI	rs431905515
Biobank	rs431905515
1000 genomes	rs431905515
hgdp	rs431905515
ensembl	rs431905515
geneview	rs431905515
scholar	rs431905515
google	rs431905515
pharmgkb	rs431905515
gwascentral	rs431905515
openSNP	rs431905515
23andMe	rs431905515
SNPshot	rs431905515
SNPdbe	rs431905515
MSV3d	rs431905515
GWAS Ctlg	rs431905515

Max Magnitude

8

c.671T>C (p.Leu224Pro)

ClinVar
Risk	Rs431905515(C;C)
Alt	Rs431905515(C;C)
Reference	Rs431905515(T;T)
Significance	Pathogenic
Disease	Infantile Parkinsonism-dystonia
Variation	info
Gene	SLC6A3
CLNDBN	Infantile Parkinsonism-dystonia
Reversed	1
HGVS	NC_000005.9:g.1422112A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083263.5,