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rs864309523

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864309523(A;A)
Make rs864309523(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position33173522
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs864309523
ebirs864309523
HLIrs864309523
Exacrs864309523
Varsomers864309523
Maprs864309523
PheGenIrs864309523
hapmaprs864309523
1000 genomesrs864309523
hgdprs864309523
ensemblrs864309523
gopubmedrs864309523
geneviewrs864309523
scholarrs864309523
googlers864309523
pharmgkbrs864309523
gwascentralrs864309523
openSNPrs864309523
23andMers864309523
23andMe allrs864309523
SNP Nexus

SNPshotrs864309523
SNPdbers864309523
MSV3drs864309523
GWAS Ctlgrs864309523
Max Magnitude0
ClinVar
Risk rs864309523(A;A)
Alt rs864309523(A;A)
Reference rs864309523(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene COL11A2
CLNDBN Deafness, autosomal recessive 53
Reversed 1
HGVS NC_000006.11:g.33141299G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000202578.1,