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rs775863165

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs775863165(C;T)
Make rs775863165(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position32889110
GeneHPCA
is asnp
is mentioned by
dbSNPrs775863165
ebirs775863165
HLIrs775863165
Exacrs775863165
Varsomers775863165
Maprs775863165
PheGenIrs775863165
hapmaprs775863165
1000 genomesrs775863165
hgdprs775863165
ensemblrs775863165
gopubmedrs775863165
geneviewrs775863165
scholarrs775863165
googlers775863165
pharmgkbrs775863165
gwascentralrs775863165
openSNPrs775863165
23andMers775863165
23andMe allrs775863165
SNP Nexus

SNPshotrs775863165
SNPdbers775863165
MSV3drs775863165
GWAS Ctlgrs775863165
Max Magnitude0
ClinVar
Risk rs775863165(A,T;A,T)
Alt rs775863165(A,T;A,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
CLNACC RCV000170353.3,