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rs796052093

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs796052093(C;C)
Make rs796052093(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position75121387
GeneCOL12A1
is asnp
is mentioned by
dbSNPrs796052093
dbSNP (old)rs796052093
ClinGenrs796052093
ebirs796052093
HLIrs796052093
Exacrs796052093
Gnomadrs796052093
Varsomers796052093
Maprs796052093
PheGenIrs796052093
Biobankrs796052093
1000 genomesrs796052093
hgdprs796052093
ensemblrs796052093
gopubmedrs796052093
geneviewrs796052093
scholarrs796052093
googlers796052093
pharmgkbrs796052093
gwascentralrs796052093
openSNPrs796052093
23andMers796052093
23andMe allrs796052093
SNP Nexus

SNPshotrs796052093
SNPdbers796052093
MSV3drs796052093
GWAS Ctlgrs796052093
Max Magnitude0
ClinVar
Risk rs796052093(C;C)
Alt rs796052093(C;C)
Reference Rs796052093(T;T)
Significance Pathogenic
Disease Bethlem myopathy 2 not provided
Variation info
Gene COL12A1
CLNDBN Bethlem myopathy 2 not provided
Reversed 1
HGVS NC_000006.11:g.75831103A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000186499.2, RCV000480507.1,