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rs886044584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTTCC;CTTCC) 0 common in clinvar
Chromosome6
Position33176751
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs886044584
dbSNP (classic)rs886044584
ClinGenrs886044584
ebirs886044584
HLIrs886044584
Exacrs886044584
Gnomadrs886044584
Varsomers886044584
LitVarrs886044584
Maprs886044584
PheGenIrs886044584
Biobankrs886044584
1000 genomesrs886044584
hgdprs886044584
ensemblrs886044584
geneviewrs886044584
scholarrs886044584
googlers886044584
pharmgkbrs886044584
gwascentralrs886044584
openSNPrs886044584
23andMers886044584
SNPshotrs886044584
SNPdbers886044584
MSV3drs886044584
GWAS Ctlgrs886044584
Max Magnitude0
ClinVar
Risk rs886044584(T;T)
Alt rs886044584(T;T)
Reference Rs886044584(CTTCC;CTTCC)
Significance Pathogenic
Disease Otospondylomegaepiphyseal dysplasia
Variation info
Gene COL11A2
CLNDBN Otospondylomegaepiphyseal dysplasia
Reversed 0
HGVS NC_000006.11:g.33144528_33144532delCTTCCinsT
CLNSRC
CLNACC RCV000268205.1,