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rs398123645

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123645(-;-)
Make rs398123645(-;A)
ReferenceGRCh38 38.1/141
Chromosome21
Position46121558
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs398123645
ebirs398123645
HLIrs398123645
Exacrs398123645
Varsomers398123645
Maprs398123645
PheGenIrs398123645
hapmaprs398123645
1000 genomesrs398123645
hgdprs398123645
ensemblrs398123645
gopubmedrs398123645
geneviewrs398123645
scholarrs398123645
googlers398123645
pharmgkbrs398123645
gwascentralrs398123645
openSNPrs398123645
23andMers398123645
23andMe allrs398123645
SNP Nexus

SNPshotrs398123645
SNPdbers398123645
MSV3drs398123645
GWAS Ctlgrs398123645
Max Magnitude0
ClinVar
Risk rs398123645(;)
Alt rs398123645(;)
Reference rs398123645(A;A)
Significance Pathogenic
Disease not provided Bethlem myopathy Ullrich congenital muscular dystrophy
Variation info
Gene COL6A2
CLNDBN not provided Bethlem myopathy Ullrich congenital muscular dystrophy
Reversed 0
HGVS NC_000021.8:g.47541472delA
CLNSRC ClinVar
CLNACC RCV000079846.3, RCV000175292.1, RCV000175293.1,