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rs552651651

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs552651651(C;T)
Make rs552651651(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position237334727
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs552651651
ebirs552651651
HLIrs552651651
Exacrs552651651
Varsomers552651651
Maprs552651651
PheGenIrs552651651
hapmaprs552651651
1000 genomesrs552651651
hgdprs552651651
ensemblrs552651651
gopubmedrs552651651
geneviewrs552651651
scholarrs552651651
googlers552651651
pharmgkbrs552651651
gwascentralrs552651651
openSNPrs552651651
23andMers552651651
23andMe allrs552651651
SNP Nexus

SNPshotrs552651651
SNPdbers552651651
MSV3drs552651651
GWAS Ctlgrs552651651
Max Magnitude0
ClinVar
Risk rs552651651(T;T)
Alt rs552651651(T;T)
Reference rs552651651(C;C)
Significance Pathogenic
Disease Dystonia 27
Variation info
Gene COL6A3
CLNDBN Dystonia 27
Reversed 0
HGVS NC_000002.11:g.238243370C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000172849.2,