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rs121912946

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912946(A;A)
Make rs121912946(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position33166736
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs121912946
ebirs121912946
HLIrs121912946
Exacrs121912946
Varsomers121912946
Maprs121912946
PheGenIrs121912946
hapmaprs121912946
1000 genomesrs121912946
hgdprs121912946
ensemblrs121912946
gopubmedrs121912946
geneviewrs121912946
scholarrs121912946
googlers121912946
pharmgkbrs121912946
gwascentralrs121912946
openSNPrs121912946
23andMers121912946
23andMe allrs121912946
SNP Nexus

SNPshotrs121912946
SNPdbers121912946
MSV3drs121912946
GWAS Ctlgrs121912946
Max Magnitude0
OMIM120290
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912946(A;A)
Alt rs121912946(A;A)
Reference rs121912946(G;G)
Significance Pathogenic
Disease Weissenbacher-Zweymuller syndrome Otospondylomegaepiphyseal dysplasia
Variation info
Gene COL11A2
CLNDBN Weissenbacher-Zweymuller syndrome Otospondylomegaepiphyseal dysplasia, heterozygous
Reversed 1
HGVS NC_000006.11:g.33134513C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018660.27, RCV000018661.23,