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rs121912949

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912949(A;A)
Make rs121912949(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position33174048
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs121912949
ebirs121912949
HLIrs121912949
Exacrs121912949
Varsomers121912949
Maprs121912949
PheGenIrs121912949
hapmaprs121912949
1000 genomesrs121912949
hgdprs121912949
ensemblrs121912949
gopubmedrs121912949
geneviewrs121912949
scholarrs121912949
googlers121912949
pharmgkbrs121912949
gwascentralrs121912949
openSNPrs121912949
23andMers121912949
23andMe allrs121912949
SNP Nexus

SNPshotrs121912949
SNPdbers121912949
MSV3drs121912949
GWAS Ctlgrs121912949
Max Magnitude0
OMIM120290
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912949(A,T;A,T)
Alt rs121912949(A,T;A,T)
Reference rs121912949(C;C)
Significance Pathogenic
Disease Otospondylomegaepiphyseal dysplasia
Variation info
Gene COL11A2
CLNDBN Otospondylomegaepiphyseal dysplasia
Reversed 1
HGVS NC_000006.11:g.33141825G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018664.27,