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rs371100799

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
Position36461529
GeneCLDN14, LOC105369301
is asnp
is mentioned by
dbSNPrs371100799
dbSNP (old)rs371100799
ClinGenrs371100799
ebirs371100799
HLIrs371100799
Exacrs371100799
Gnomadrs371100799
Varsomers371100799
Maprs371100799
PheGenIrs371100799
Biobankrs371100799
1000 genomesrs371100799
hgdprs371100799
ensemblrs371100799
gopubmedrs371100799
geneviewrs371100799
scholarrs371100799
googlers371100799
pharmgkbrs371100799
gwascentralrs371100799
openSNPrs371100799
23andMers371100799
23andMe allrs371100799
SNP Nexus

SNPshotrs371100799
SNPdbers371100799
MSV3drs371100799
GWAS Ctlgrs371100799
Max Magnitude6

rs371100799, also known as c.167G>A, p.Trp56Ter and W56*, 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 Rs371100799(T;T)
Alt Rs371100799(T;T)
Reference Rs371100799(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene CLDN14
CLNDBN Deafness, autosomal recessive 29
Reversed 0
HGVS NC_000021.8:g.37833827C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000169748.3,