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rs886043113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome2
Position237347812
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs886043113
dbSNP (classic)rs886043113
ClinGenrs886043113
ebirs886043113
HLIrs886043113
Exacrs886043113
Gnomadrs886043113
Varsomers886043113
LitVarrs886043113
Maprs886043113
PheGenIrs886043113
Biobankrs886043113
1000 genomesrs886043113
hgdprs886043113
ensemblrs886043113
geneviewrs886043113
scholarrs886043113
googlers886043113
pharmgkbrs886043113
gwascentralrs886043113
openSNPrs886043113
23andMers886043113
SNPshotrs886043113
SNPdbers886043113
MSV3drs886043113
GWAS Ctlgrs886043113
Max Magnitude0
ClinVar
Risk rs886043113(A;A)
Alt rs886043113(A;A)
Reference Rs886043113(G;G)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy 1 not provided
Variation info
Gene COL6A3
CLNDBN Ullrich congenital muscular dystrophy 1 not provided
Reversed 0
HGVS NC_000002.11:g.238256455G>A
CLNSRC
CLNACC RCV000359013.1, RCV000432500.1,