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rs121912866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912866(C;T)
Make rs121912866(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47978698
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912866
ebirs121912866
HLIrs121912866
Exacrs121912866
Varsomers121912866
Maprs121912866
PheGenIrs121912866
hapmaprs121912866
1000 genomesrs121912866
hgdprs121912866
ensemblrs121912866
gopubmedrs121912866
geneviewrs121912866
scholarrs121912866
googlers121912866
pharmgkbrs121912866
gwascentralrs121912866
openSNPrs121912866
23andMers121912866
23andMe allrs121912866
SNP Nexus

SNPshotrs121912866
SNPdbers121912866
MSV3drs121912866
GWAS Ctlgrs121912866
Max Magnitude0
OMIM120140
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912866(T;T)
Alt rs121912866(T;T)
Reference rs121912866(C;C)
Significance Pathogenic
Disease Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48372481G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018899.24,