Have questions? Visit https://www.reddit.com/r/SNPedia

rs139552940

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139552940(A;A)
Make rs139552940(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position46131981
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs139552940
ebirs139552940
HLIrs139552940
Exacrs139552940
Varsomers139552940
Maprs139552940
PheGenIrs139552940
hapmaprs139552940
1000 genomesrs139552940
hgdprs139552940
ensemblrs139552940
gopubmedrs139552940
geneviewrs139552940
scholarrs139552940
googlers139552940
pharmgkbrs139552940
gwascentralrs139552940
openSNPrs139552940
23andMers139552940
23andMe allrs139552940
SNP Nexus

SNPshotrs139552940
SNPdbers139552940
MSV3drs139552940
GWAS Ctlgrs139552940
Max Magnitude0
ClinVar
Risk rs139552940(A;A)
Alt rs139552940(A;A)
Reference rs139552940(G;G)
Significance Pathogenic
Disease BETHLEM MYOPATHY 1 Myopathy
Variation info
Gene COL6A2
CLNDBN BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE Myopathy
Reversed 0
HGVS NC_000021.8:g.47551895G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022490.29, RCV000193161.1,