Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912884

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912884(C;T)
Make rs121912884(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47985575
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912884
ebirs121912884
HLIrs121912884
Exacrs121912884
Varsomers121912884
Maprs121912884
PheGenIrs121912884
hapmaprs121912884
1000 genomesrs121912884
hgdprs121912884
ensemblrs121912884
gopubmedrs121912884
geneviewrs121912884
scholarrs121912884
googlers121912884
pharmgkbrs121912884
gwascentralrs121912884
openSNPrs121912884
23andMers121912884
23andMe allrs121912884
SNP Nexus

SNPshotrs121912884
SNPdbers121912884
MSV3drs121912884
GWAS Ctlgrs121912884
Max Magnitude0
OMIM120140
Desc
Variant0033
Relatedalso
ClinVar
Risk rs121912884(T;T)
Alt rs121912884(T;T)
Reference rs121912884(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.48379358G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018926.27,