rs775863165

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
(C;T)	3	Carrier of a mutation in the HPCA gene, but significance unclear

Make rs775863165(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

32889110

Gene

HPCA

is a	snp
is	mentioned by
dbSNP	rs775863165
dbSNP (classic)	rs775863165
ClinGen	rs775863165
ebi	rs775863165
HLI	rs775863165
Exac	rs775863165
Gnomad	rs775863165
Varsome	rs775863165
LitVar	rs775863165
Map	rs775863165
PheGenI	rs775863165
Biobank	rs775863165
1000 genomes	rs775863165
hgdp	rs775863165
ensembl	rs775863165
geneview	rs775863165
scholar	rs775863165
google	rs775863165
pharmgkb	rs775863165
gwascentral	rs775863165
openSNP	rs775863165
23andMe	rs775863165
SNPshot	rs775863165
SNPdbe	rs775863165
MSV3d	rs775863165
GWAS Ctlg	rs775863165

Max Magnitude

5.7

Two variant alleles are known for rs775863165; the c.212C>A, p.Thr71Asn or T71N variant is reported to be a mutation leading to dystonia 2 (torsion; DYT2), whereas the c.212C>T (p.Thr71Ile) variant, while observed to exist, has not to our knowledge been reported so far in a publication as associated with DYT2.

ClinVar
Risk	Rs775863165(A;A) rs775863165(T;T)
Alt	Rs775863165(A;A) rs775863165(T;T)
Reference	Rs775863165(C;C)
Significance	Pathogenic
Disease	Dystonia 2
Variation	info
Gene	HPCA
CLNDBN	Dystonia 2, torsion, autosomal recessive
Reversed	0
HGVS	NC_000001.10:g.33354711C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000170353.3,