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rs121912873

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912873(-;-)
Make rs121912873(-;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47977627
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912873
ebirs121912873
HLIrs121912873
Exacrs121912873
Varsomers121912873
Maprs121912873
PheGenIrs121912873
hapmaprs121912873
1000 genomesrs121912873
hgdprs121912873
ensemblrs121912873
gopubmedrs121912873
geneviewrs121912873
scholarrs121912873
googlers121912873
pharmgkbrs121912873
gwascentralrs121912873
openSNPrs121912873
23andMers121912873
23andMe allrs121912873
SNP Nexus

SNPshotrs121912873
SNPdbers121912873
MSV3drs121912873
GWAS Ctlgrs121912873
Max Magnitude0
OMIM120140
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121912873(;)
Alt rs121912873(;)
Reference rs121912873(T;T)
Significance Pathogenic
Disease Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48371410delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000018909.27,