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rs182976977

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs182976977(C;C)
Make rs182976977(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position237333533
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs182976977
ebirs182976977
HLIrs182976977
Exacrs182976977
Varsomers182976977
Maprs182976977
PheGenIrs182976977
hapmaprs182976977
1000 genomesrs182976977
hgdprs182976977
ensemblrs182976977
gopubmedrs182976977
geneviewrs182976977
scholarrs182976977
googlers182976977
pharmgkbrs182976977
gwascentralrs182976977
openSNPrs182976977
23andMers182976977
23andMe allrs182976977
SNP Nexus

SNPshotrs182976977
SNPdbers182976977
MSV3drs182976977
GWAS Ctlgrs182976977
Max Magnitude0
ClinVar
Risk rs182976977(A,C;A,C)
Alt rs182976977(A,C;A,C)
Reference rs182976977(G;G)
Significance Pathogenic
Disease Dystonia 27
Variation info
Gene COL6A3
CLNDBN Dystonia 27
Reversed 0
HGVS NC_000002.11:g.238242176G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000172850.2,