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rs886042653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome1
Position102961865
GeneCOL11A1
is asnp
is mentioned by
dbSNPrs886042653
dbSNP (classic)rs886042653
ClinGenrs886042653
ebirs886042653
HLIrs886042653
Exacrs886042653
Gnomadrs886042653
Varsomers886042653
LitVarrs886042653
Maprs886042653
PheGenIrs886042653
Biobankrs886042653
1000 genomesrs886042653
hgdprs886042653
ensemblrs886042653
geneviewrs886042653
scholarrs886042653
googlers886042653
pharmgkbrs886042653
gwascentralrs886042653
openSNPrs886042653
23andMers886042653
SNPshotrs886042653
SNPdbers886042653
MSV3drs886042653
GWAS Ctlgrs886042653
Max Magnitude0
ClinVar
Risk rs886042653(A;A)
Alt rs886042653(A;A)
Reference Rs886042653(C;C)
Significance Pathogenic
Disease Marshall syndrome Stickler syndrome
Variation info
Gene COL11A1
CLNDBN Marshall syndrome Stickler syndrome, type 2
Reversed 0
HGVS NC_000001.10:g.103427421C>A
CLNSRC
CLNACC RCV000279201.1, RCV000389916.1,