rs550921485

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	5.7	Dystonia 2, torsion (DYT2) genotype
(A;G)	3	Carrier of a dystonia (DYT2) mutation
(G;G)	0	common in clinvar

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

32893848

Gene

HPCA

is a	snp
is	mentioned by
dbSNP	rs550921485
dbSNP (classic)	rs550921485
ClinGen	rs550921485
ebi	rs550921485
HLI	rs550921485
Exac	rs550921485
Gnomad	rs550921485
Varsome	rs550921485
LitVar	rs550921485
Map	rs550921485
PheGenI	rs550921485
Biobank	rs550921485
1000 genomes	rs550921485
hgdp	rs550921485
ensembl	rs550921485
geneview	rs550921485
scholar	rs550921485
google	rs550921485
pharmgkb	rs550921485
gwascentral	rs550921485
openSNP	rs550921485
23andMe	rs550921485
SNPshot	rs550921485
SNPdbe	rs550921485
MSV3d	rs550921485
GWAS Ctlg	rs550921485

Max Magnitude

5.7

aka c.568G>A, p.Ala190Thr or A190T

ClinVar
Risk	Rs550921485(A;A)
Alt	Rs550921485(A;A)
Reference	Rs550921485(G;G)
Significance	Pathogenic
Disease	Dystonia 2
Variation	info
Gene	HPCA
CLNDBN	Dystonia 2, torsion, autosomal recessive
Reversed	0
HGVS	NC_000001.10:g.33359449G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000170354.3,