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rs886042660

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CACCCTTGTCAC;CACCCTTGTCAC) 0 common in clinvar
Chromosome1
Position102913660
GeneCOL11A1
is asnp
is mentioned by
dbSNPrs886042660
dbSNP (classic)rs886042660
ClinGenrs886042660
ebirs886042660
HLIrs886042660
Exacrs886042660
Gnomadrs886042660
Varsomers886042660
LitVarrs886042660
Maprs886042660
PheGenIrs886042660
Biobankrs886042660
1000 genomesrs886042660
hgdprs886042660
ensemblrs886042660
geneviewrs886042660
scholarrs886042660
googlers886042660
pharmgkbrs886042660
gwascentralrs886042660
openSNPrs886042660
23andMers886042660
SNPshotrs886042660
SNPdbers886042660
MSV3drs886042660
GWAS Ctlgrs886042660
Max Magnitude0
ClinVar
Risk rs886042660(-;-)
Alt rs886042660(-;-)
Reference Rs886042660(CACCCTTGTCAC;CACCCTTGTCAC)
Significance Probable-Pathogenic
Disease Stickler syndrome
Variation info
Gene COL11A1
CLNDBN Stickler syndrome, type 2
Reversed 0
HGVS NC_000001.10:g.103379216_103379227delCACCCTTGTCAC
CLNSRC
CLNACC RCV000315491.1,