rs267607069

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 38.1/141

Chromosome

5

Position

1411328

Gene

SLC6A3

is a	snp
is	mentioned by
dbSNP	rs267607069
dbSNP (classic)	rs267607069
ClinGen	rs267607069
ebi	rs267607069
HLI	rs267607069
Exac	rs267607069
Gnomad	rs267607069
Varsome	rs267607069
LitVar	rs267607069
Map	rs267607069
PheGenI	rs267607069
Biobank	rs267607069
1000 genomes	rs267607069
hgdp	rs267607069
ensembl	rs267607069
geneview	rs267607069
scholar	rs267607069
google	rs267607069
pharmgkb	rs267607069
gwascentral	rs267607069
openSNP	rs267607069
23andMe	rs267607069
SNPshot	rs267607069
SNPdbe	rs267607069
MSV3d	rs267607069
GWAS Ctlg	rs267607069

Max Magnitude

8

c.1184C>T (p.Pro395Leu)

ClinVar
Risk	Rs267607069(T;T)
Alt	Rs267607069(T;T)
Reference	Rs267607069(C;C)
Significance	Pathogenic
Disease	Infantile Parkinsonism-dystonia
Variation	info
Gene	SLC6A3
CLNDBN	Infantile Parkinsonism-dystonia
Reversed	1
HGVS	NC_000005.9:g.1411443G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018250.28,