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rs786205675

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205675(A;A)
Make rs786205675(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position32889123
GeneHPCA
is asnp
is mentioned by
dbSNPrs786205675
ebirs786205675
HLIrs786205675
Exacrs786205675
Varsomers786205675
Maprs786205675
PheGenIrs786205675
hapmaprs786205675
1000 genomesrs786205675
hgdprs786205675
ensemblrs786205675
gopubmedrs786205675
geneviewrs786205675
scholarrs786205675
googlers786205675
pharmgkbrs786205675
gwascentralrs786205675
openSNPrs786205675
23andMers786205675
23andMe allrs786205675
SNP Nexus

SNPshotrs786205675
SNPdbers786205675
MSV3drs786205675
GWAS Ctlgrs786205675
Max Magnitude0
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
CLNACC RCV000170352.3,