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rs797044458

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044458(-;-)
Make rs797044458(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position45997703
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs797044458
dbSNP (old)rs797044458
ClinGenrs797044458
ebirs797044458
HLIrs797044458
Exacrs797044458
Gnomadrs797044458
Varsomers797044458
Maprs797044458
PheGenIrs797044458
Biobankrs797044458
1000 genomesrs797044458
hgdprs797044458
ensemblrs797044458
gopubmedrs797044458
geneviewrs797044458
scholarrs797044458
googlers797044458
pharmgkbrs797044458
gwascentralrs797044458
openSNPrs797044458
23andMers797044458
23andMe allrs797044458
SNP Nexus

SNPshotrs797044458
SNPdbers797044458
MSV3drs797044458
GWAS Ctlgrs797044458
Max Magnitude0
ClinVar
Risk rs797044458(-;-)
Alt rs797044458(-;-)
Reference Rs797044458(G;G)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy 1
Variation info
Gene COL6A1
CLNDBN Ullrich congenital muscular dystrophy 1
Reversed 0
HGVS NC_000021.8:g.47417617delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000018718.32,