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rs606231410

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231410(G;T)
Make rs606231410(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position33189443
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs606231410
dbSNP (classic)rs606231410
ClinGenrs606231410
ebirs606231410
HLIrs606231410
Exacrs606231410
Gnomadrs606231410
Varsomers606231410
LitVarrs606231410
Maprs606231410
PheGenIrs606231410
Biobankrs606231410
1000 genomesrs606231410
hgdprs606231410
ensemblrs606231410
geneviewrs606231410
scholarrs606231410
googlers606231410
pharmgkbrs606231410
gwascentralrs606231410
openSNPrs606231410
23andMers606231410
SNPshotrs606231410
SNPdbers606231410
MSV3drs606231410
GWAS Ctlgrs606231410
Max Magnitude0
ClinVar
Risk rs606231410(T;T)
Alt rs606231410(T;T)
Reference Rs606231410(G;G)
Significance Pathogenic
Disease Nonsyndromic Deafness Deafness
Variation info
Gene COL11A2
CLNDBN Nonsyndromic Deafness Deafness, autosomal recessive 53
Reversed 1
HGVS NC_000006.11:g.33157220C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000148342.2, RCV000202598.1,