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rs376880198

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376880198(C;T)
Make rs376880198(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position46132019
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs376880198
ebirs376880198
HLIrs376880198
Exacrs376880198
Varsomers376880198
Maprs376880198
PheGenIrs376880198
hapmaprs376880198
1000 genomesrs376880198
hgdprs376880198
ensemblrs376880198
gopubmedrs376880198
geneviewrs376880198
scholarrs376880198
googlers376880198
pharmgkbrs376880198
gwascentralrs376880198
openSNPrs376880198
23andMers376880198
23andMe allrs376880198
SNP Nexus

SNPshotrs376880198
SNPdbers376880198
MSV3drs376880198
GWAS Ctlgrs376880198
Max Magnitude0
ClinVar
Risk rs376880198(T;T)
Alt rs376880198(T;T)
Reference rs376880198(C;C)
Significance Pathogenic
Disease BETHLEM MYOPATHY 1
Variation info
Gene COL6A2
CLNDBN BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
Reversed 0
HGVS NC_000021.8:g.47551933C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022490.29,