rs143797113

plus

Geno	Mag	Summary
(A;A)	6	Deafness; early-onset (prelingual)
(A;G)	3	Carrier of a deafness mutation
(G;G)	0	common/normal

Reference

GRCh38.p7 38.3/149

Chromosome

21

Position

36461208

Gene	CLDN14, LOC105369301

is a	snp
is	mentioned by
dbSNP	rs143797113
dbSNP (classic)	rs143797113
ClinGen	rs143797113
ebi	rs143797113
HLI	rs143797113
Exac	rs143797113
Gnomad	rs143797113
Varsome	rs143797113
LitVar	rs143797113
Map	rs143797113
PheGenI	rs143797113
Biobank	rs143797113
1000 genomes	rs143797113
hgdp	rs143797113
ensembl	rs143797113
geneview	rs143797113
scholar	rs143797113
google	rs143797113
pharmgkb	rs143797113
gwascentral	rs143797113
openSNP	rs143797113
23andMe	rs143797113
SNPshot	rs143797113
SNPdbe	rs143797113
MSV3d	rs143797113
GWAS Ctlg	rs143797113

Max Magnitude

6

rs143797113, also known as c.488C>T and p.Ala163Val, represents an uncommon variant in the CLDN14 gene on chromosome 21.

Although initially reported in ClinVar as a variant of unknown significance, the minor rs143797113(A) is now published as pathogenic for an early (childhood) onset form of deafness when inherited recessively, i.e. in homozygous minor or compound heterozgyote form.[PMID 27838790 ]

ClinVar
Risk	Rs143797113(A;A)
Alt	Rs143797113(A;A)
Reference	Rs143797113(G;G)
Significance	Unknown
Disease	not specified
Variation	info
Gene	CLDN14
CLNDBN	not specified
Reversed	0
HGVS	NC_000021.8:g.37833506G>A
CLNSRC
CLNACC	RCV000222605.1,