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rs786200885

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 6 Deafness; early-onset (prelingual)
(-;T) 3 Carrier of a deafness mutation
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position36461298
GeneCLDN14, LOC105369301
is asnp
is mentioned by
dbSNPrs786200885
ebirs786200885
HLIrs786200885
Exacrs786200885
Varsomers786200885
Maprs786200885
PheGenIrs786200885
hapmaprs786200885
1000 genomesrs786200885
hgdprs786200885
ensemblrs786200885
gopubmedrs786200885
geneviewrs786200885
scholarrs786200885
googlers786200885
pharmgkbrs786200885
gwascentralrs786200885
openSNPrs786200885
23andMers786200885
23andMe allrs786200885
SNP Nexus

SNPshotrs786200885
SNPdbers786200885
MSV3drs786200885
GWAS Ctlgrs786200885
Max Magnitude6

rs786200885, also known as c.398delT and p.Met133Argfs, 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
Alt
Reference Rs786200885(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene CLDN14
CLNDBN Deafness, autosomal recessive 29
Reversed 1
HGVS NC_000021.8:g.37833596delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005123.3,