rs786200885

minus

Geno	Mag	Summary
(-;-)	6	Deafness; early-onset (prelingual)
(-;T)	3	Carrier of a deafness mutation
(T;T)	0	common in clinvar

Reference

GRCh38.p2 38.2/146

Chromosome

21

Position

36461298

Gene	CLDN14, LOC105369301

is a	snp
is	mentioned by
dbSNP	rs786200885
dbSNP (classic)	rs786200885
ClinGen	rs786200885
ebi	rs786200885
HLI	rs786200885
Exac	rs786200885
Gnomad	rs786200885
Varsome	rs786200885
LitVar	rs786200885
Map	rs786200885
PheGenI	rs786200885
Biobank	rs786200885
1000 genomes	rs786200885
hgdp	rs786200885
ensembl	rs786200885
geneview	rs786200885
scholar	rs786200885
google	rs786200885
pharmgkb	rs786200885
gwascentral	rs786200885
openSNP	rs786200885
23andMe	rs786200885
SNPshot	rs786200885
SNPdbe	rs786200885
MSV3d	rs786200885
GWAS Ctlg	rs786200885

Max Magnitude

6

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	Rs786200885(-;-)
Alt	Rs786200885(-;-)
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,