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rs550921485

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs550921485(A;A)
Make rs550921485(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position32893848
GeneHPCA
is asnp
is mentioned by
dbSNPrs550921485
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 Magnitude0
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
CLNACC RCV000170354.3,