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rs368027306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a deafness mutation
(T;T) 6 Deafness; early-onset (prelingual)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position36461454
GeneCLDN14, LOC105369301
is asnp
is mentioned by
dbSNPrs368027306
ClinGenrs368027306
ebirs368027306
HLIrs368027306
Exacrs368027306
Varsomers368027306
Maprs368027306
PheGenIrs368027306
hapmaprs368027306
1000 genomesrs368027306
hgdprs368027306
ensemblrs368027306
gopubmedrs368027306
geneviewrs368027306
scholarrs368027306
googlers368027306
pharmgkbrs368027306
gwascentralrs368027306
openSNPrs368027306
23andMers368027306
23andMe allrs368027306
SNP Nexus

SNPshotrs368027306
SNPdbers368027306
MSV3drs368027306
GWAS Ctlgrs368027306
Max Magnitude6

rs368027306, also known as c.242G>A, p.Arg81His and R81H, represents a variant in the CLDN14 gene on chromosome 21.

Inherited in a recessive manner, the minor allele of this SNP is considered pathogenic for a form of deafness; see OMIM and ClinVar sidebars for details.


ClinVar
Risk Rs368027306(T;T)
Alt Rs368027306(T;T)
Reference Rs368027306(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene CLDN14
CLNDBN Deafness, autosomal recessive 29
Reversed 0
HGVS NC_000021.8:g.37833752C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000169747.3,