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rs121912945

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912945(A;A)
Make rs121912945(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position33177216
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs121912945
ebirs121912945
HLIrs121912945
Exacrs121912945
Varsomers121912945
Maprs121912945
PheGenIrs121912945
hapmaprs121912945
1000 genomesrs121912945
hgdprs121912945
ensemblrs121912945
gopubmedrs121912945
geneviewrs121912945
scholarrs121912945
googlers121912945
pharmgkbrs121912945
gwascentralrs121912945
openSNPrs121912945
23andMers121912945
23andMe allrs121912945
SNP Nexus

SNPshotrs121912945
SNPdbers121912945
MSV3drs121912945
GWAS Ctlgrs121912945
Max Magnitude0
OMIM120290
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912945(A,C;A,C)
Alt rs121912945(A,C;A,C)
Reference rs121912945(G;G)
Significance Pathogenic
Disease Otospondylomegaepiphyseal dysplasia
Variation info
Gene COL11A2
CLNDBN Otospondylomegaepiphyseal dysplasia
Reversed 1
HGVS NC_000006.11:g.33144993C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018658.27,