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rs121912869

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912869(C;T)
Make rs121912869(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47995904
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912869
ebirs121912869
HLIrs121912869
Exacrs121912869
Varsomers121912869
Maprs121912869
PheGenIrs121912869
hapmaprs121912869
1000 genomesrs121912869
hgdprs121912869
ensemblrs121912869
gopubmedrs121912869
geneviewrs121912869
scholarrs121912869
googlers121912869
pharmgkbrs121912869
gwascentralrs121912869
openSNPrs121912869
23andMers121912869
23andMe allrs121912869
SNP Nexus

SNPshotrs121912869
SNPdbers121912869
MSV3drs121912869
GWAS Ctlgrs121912869
Max Magnitude0
OMIM120140
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912869(T;T)
Alt rs121912869(T;T)
Reference rs121912869(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.48389687G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018904.27,