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rs121912948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912948(A;A)
Make rs121912948(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position33174534
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs121912948
ebirs121912948
HLIrs121912948
Exacrs121912948
Varsomers121912948
Maprs121912948
PheGenIrs121912948
hapmaprs121912948
1000 genomesrs121912948
hgdprs121912948
ensemblrs121912948
gopubmedrs121912948
geneviewrs121912948
scholarrs121912948
googlers121912948
pharmgkbrs121912948
gwascentralrs121912948
openSNPrs121912948
23andMers121912948
23andMe allrs121912948
SNP Nexus

SNPshotrs121912948
SNPdbers121912948
MSV3drs121912948
GWAS Ctlgrs121912948
Max Magnitude0
OMIM120290
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912948(A;A)
Alt rs121912948(A;A)
Reference rs121912948(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene COL11A2
CLNDBN Deafness, autosomal dominant 13
Reversed 1
HGVS NC_000006.11:g.33142311C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018663.27,