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rs121912947

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912947(C;T)
Make rs121912947(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position33171763
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs121912947
ebirs121912947
HLIrs121912947
Exacrs121912947
Varsomers121912947
Maprs121912947
PheGenIrs121912947
hapmaprs121912947
1000 genomesrs121912947
hgdprs121912947
ensemblrs121912947
gopubmedrs121912947
geneviewrs121912947
scholarrs121912947
googlers121912947
pharmgkbrs121912947
gwascentralrs121912947
openSNPrs121912947
23andMers121912947
23andMe allrs121912947
SNP Nexus

SNPshotrs121912947
SNPdbers121912947
MSV3drs121912947
GWAS Ctlgrs121912947
Max Magnitude0
OMIM120290
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912947(T;T)
Alt rs121912947(T;T)
Reference rs121912947(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene COL11A2
CLNDBN Deafness, autosomal dominant 13
Reversed 1
HGVS NC_000006.11:g.33139540G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018662.23,