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rs775863165

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position32889110
GeneHPCA
is asnp
is mentioned by
dbSNPrs775863165
ClinGenrs775863165
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 Magnitude5.7

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,