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rs121912885

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912885(C;T)
Make rs121912885(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47983435
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912885
ebirs121912885
HLIrs121912885
Exacrs121912885
Varsomers121912885
Maprs121912885
PheGenIrs121912885
hapmaprs121912885
1000 genomesrs121912885
hgdprs121912885
ensemblrs121912885
gopubmedrs121912885
geneviewrs121912885
scholarrs121912885
googlers121912885
pharmgkbrs121912885
gwascentralrs121912885
openSNPrs121912885
23andMers121912885
23andMe allrs121912885
SNP Nexus

SNPshotrs121912885
SNPdbers121912885
MSV3drs121912885
GWAS Ctlgrs121912885
Max Magnitude0
OMIM120140
Desc
Variant0034
Relatedalso
ClinVar
Risk rs121912885(A,T;A,T)
Alt rs121912885(A,T;A,T)
Reference rs121912885(C;C)
Significance Pathogenic
Disease Stickler syndrome Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN Stickler syndrome, type I, nonsyndromic ocular Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48377218G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018927.27, RCV000144727.1,