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rs786205870

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205870(A;A)
Make rs786205870(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position237344358
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs786205870
ebirs786205870
HLIrs786205870
Exacrs786205870
Varsomers786205870
Maprs786205870
PheGenIrs786205870
hapmaprs786205870
1000 genomesrs786205870
hgdprs786205870
ensemblrs786205870
gopubmedrs786205870
geneviewrs786205870
scholarrs786205870
googlers786205870
pharmgkbrs786205870
gwascentralrs786205870
openSNPrs786205870
23andMers786205870
23andMe allrs786205870
SNP Nexus

SNPshotrs786205870
SNPdbers786205870
MSV3drs786205870
GWAS Ctlgrs786205870
Max Magnitude0
ClinVar
Risk rs786205870(A;A)
Alt rs786205870(A;A)
Reference rs786205870(G;G)
Significance Pathogenic
Disease Dystonia 27
Variation info
Gene COL6A3
CLNDBN Dystonia 27
Reversed 1
HGVS NC_000002.11:g.238253001C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000172848.2,