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rs774521989

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs774521989(C;T)
Make rs774521989(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position46132125
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs774521989
ebirs774521989
HLIrs774521989
Exacrs774521989
Varsomers774521989
Maprs774521989
PheGenIrs774521989
hapmaprs774521989
1000 genomesrs774521989
hgdprs774521989
ensemblrs774521989
gopubmedrs774521989
geneviewrs774521989
scholarrs774521989
googlers774521989
pharmgkbrs774521989
gwascentralrs774521989
openSNPrs774521989
23andMers774521989
23andMe allrs774521989
SNP Nexus

SNPshotrs774521989
SNPdbers774521989
MSV3drs774521989
GWAS Ctlgrs774521989
Max Magnitude0
ClinVar
Risk rs774521989(T;T)
Alt rs774521989(T;T)
Reference rs774521989(C;C)
Significance Probable-Pathogenic
Disease Myopathy
Variation info
Gene COL6A2
CLNDBN Myopathy
Reversed 0
HGVS NC_000021.8:g.47552039C>T
CLNSRC
CLNACC RCV000194202.1,