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

rs121912940

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912940(A;A)
Make rs121912940(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46115881
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs121912940
ebirs121912940
HLIrs121912940
Exacrs121912940
Varsomers121912940
Maprs121912940
PheGenIrs121912940
hapmaprs121912940
1000 genomesrs121912940
hgdprs121912940
ensemblrs121912940
gopubmedrs121912940
geneviewrs121912940
scholarrs121912940
googlers121912940
pharmgkbrs121912940
gwascentralrs121912940
openSNPrs121912940
23andMers121912940
23andMe allrs121912940
SNP Nexus

SNPshotrs121912940
SNPdbers121912940
MSV3drs121912940
GWAS Ctlgrs121912940
Max Magnitude0
OMIM120240
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912940(A;A)
Alt rs121912940(A;A)
Reference rs121912940(G;G)
Significance Pathogenic
Disease Bethlem myopathy
Variation info
Gene COL6A2
CLNDBN Bethlem myopathy
Reversed 0
HGVS NC_000021.8:g.47535795G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018695.28,