rs786205675

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

32889123

Gene

HPCA

is a	snp
is	mentioned by
dbSNP	rs786205675
dbSNP (classic)	rs786205675
ClinGen	rs786205675
ebi	rs786205675
HLI	rs786205675
Exac	rs786205675
Gnomad	rs786205675
Varsome	rs786205675
LitVar	rs786205675
Map	rs786205675
PheGenI	rs786205675
Biobank	rs786205675
1000 genomes	rs786205675
hgdp	rs786205675
ensembl	rs786205675
geneview	rs786205675
scholar	rs786205675
google	rs786205675
pharmgkb	rs786205675
gwascentral	rs786205675
openSNP	rs786205675
23andMe	rs786205675
SNPshot	rs786205675
SNPdbe	rs786205675
MSV3d	rs786205675
GWAS Ctlg	rs786205675

Max Magnitude

5.7

aka c.225C>A, p.Asn75Lys or N75K

ClinVar
Risk	Rs786205675(A;A)
Alt	Rs786205675(A;A)
Reference	Rs786205675(C;C)
Significance	Pathogenic
Disease	Dystonia 2
Variation	info
Gene	HPCA
CLNDBN	Dystonia 2, torsion, autosomal recessive
Reversed	0
HGVS	NC_000001.10:g.33354724C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000170352.3,