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rs121912950

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912950(C;T)
Make rs121912950(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position33167305
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs121912950
ebirs121912950
HLIrs121912950
Exacrs121912950
Varsomers121912950
Maprs121912950
PheGenIrs121912950
hapmaprs121912950
1000 genomesrs121912950
hgdprs121912950
ensemblrs121912950
gopubmedrs121912950
geneviewrs121912950
scholarrs121912950
googlers121912950
pharmgkbrs121912950
gwascentralrs121912950
openSNPrs121912950
23andMers121912950
23andMe allrs121912950
SNP Nexus

SNPshotrs121912950
SNPdbers121912950
MSV3drs121912950
GWAS Ctlgrs121912950
Max Magnitude0
OMIM120290
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912950(T;T)
Alt rs121912950(T;T)
Reference rs121912950(C;C)
Significance Pathogenic
Disease Stickler syndrome
Variation info
Gene COL11A2
CLNDBN Stickler syndrome, type 3
Reversed 1
HGVS NC_000006.11:g.33135082G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018665.28,