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rs121912952

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912952(A;A)
Make rs121912952(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position33178143
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs121912952
ebirs121912952
HLIrs121912952
Exacrs121912952
Varsomers121912952
Maprs121912952
PheGenIrs121912952
hapmaprs121912952
1000 genomesrs121912952
hgdprs121912952
ensemblrs121912952
gopubmedrs121912952
geneviewrs121912952
scholarrs121912952
googlers121912952
pharmgkbrs121912952
gwascentralrs121912952
openSNPrs121912952
23andMers121912952
23andMe allrs121912952
SNP Nexus

SNPshotrs121912952
SNPdbers121912952
MSV3drs121912952
GWAS Ctlgrs121912952
Max Magnitude0
OMIM120290
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912952(A;A)
Alt rs121912952(A;A)
Reference rs121912952(C;C)
Significance Pathogenic
Disease Deafness not specified
Variation info
Gene COL11A2
CLNDBN Deafness, autosomal recessive 53 not specified
Reversed 1
HGVS NC_000006.11:g.33145920G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018667.27, RCV000217775.1,