rs371100799

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

36461529

Gene	CLDN14, LOC105369301

is a	snp
is	mentioned by
dbSNP	rs371100799
dbSNP (classic)	rs371100799
ClinGen	rs371100799
ebi	rs371100799
HLI	rs371100799
Exac	rs371100799
Gnomad	rs371100799
Varsome	rs371100799
LitVar	rs371100799
Map	rs371100799
PheGenI	rs371100799
Biobank	rs371100799
1000 genomes	rs371100799
hgdp	rs371100799
ensembl	rs371100799
geneview	rs371100799
scholar	rs371100799
google	rs371100799
pharmgkb	rs371100799
gwascentral	rs371100799
openSNP	rs371100799
23andMe	rs371100799
SNPshot	rs371100799
SNPdbe	rs371100799
MSV3d	rs371100799
GWAS Ctlg	rs371100799

Max Magnitude

6

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,