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rs796052094

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796052094(A;A)
Make rs796052094(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position75102655
GeneCOL12A1
is asnp
is mentioned by
dbSNPrs796052094
ebirs796052094
HLIrs796052094
Exacrs796052094
Varsomers796052094
Maprs796052094
PheGenIrs796052094
hapmaprs796052094
1000 genomesrs796052094
hgdprs796052094
ensemblrs796052094
gopubmedrs796052094
geneviewrs796052094
scholarrs796052094
googlers796052094
pharmgkbrs796052094
gwascentralrs796052094
openSNPrs796052094
23andMers796052094
23andMe allrs796052094
SNP Nexus

SNPshotrs796052094
SNPdbers796052094
MSV3drs796052094
GWAS Ctlgrs796052094
Max Magnitude0
ClinVar
Risk rs796052094(A;A)
Alt rs796052094(A;A)
Reference rs796052094(G;G)
Significance Pathogenic
Disease Bethlem myopathy 2
Variation info
Gene COL12A1
CLNDBN Bethlem myopathy 2
Reversed 1
HGVS NC_000006.11:g.75812371C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000186500.2,