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rs550921485

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position32893848
GeneHPCA
is asnp
is mentioned by
dbSNPrs550921485
ClinGenrs550921485
ebirs550921485
HLIrs550921485
Exacrs550921485
Varsomers550921485
Maprs550921485
PheGenIrs550921485
hapmaprs550921485
1000 genomesrs550921485
hgdprs550921485
ensemblrs550921485
gopubmedrs550921485
geneviewrs550921485
scholarrs550921485
googlers550921485
pharmgkbrs550921485
gwascentralrs550921485
openSNPrs550921485
23andMers550921485
23andMe allrs550921485
SNP Nexus

SNPshotrs550921485
SNPdbers550921485
MSV3drs550921485
GWAS Ctlgrs550921485
Max Magnitude5.7

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,