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rs767517186

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs767517186(C;G)
Make rs767517186(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position237334890
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs767517186
ebirs767517186
HLIrs767517186
Exacrs767517186
Varsomers767517186
Maprs767517186
PheGenIrs767517186
hapmaprs767517186
1000 genomesrs767517186
hgdprs767517186
ensemblrs767517186
gopubmedrs767517186
geneviewrs767517186
scholarrs767517186
googlers767517186
pharmgkbrs767517186
gwascentralrs767517186
openSNPrs767517186
23andMers767517186
23andMe allrs767517186
SNP Nexus

SNPshotrs767517186
SNPdbers767517186
MSV3drs767517186
GWAS Ctlgrs767517186
Max Magnitude0
ClinVar
Risk rs767517186(G;G)
Alt rs767517186(G;G)
Reference rs767517186(C;C)
Significance Pathogenic
Disease Dystonia 27
Variation info
Gene COL6A3
CLNDBN Dystonia 27
Reversed 0
HGVS NC_000002.11:g.238243533C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000172851.2,