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rs143797113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Deafness; early-onset (prelingual)
(A;G) 3 Carrier of a deafness mutation
(G;G) 0 common/normal
ReferenceGRCh38.p7 38.3/149
Chromosome21
Position36461208
GeneCLDN14, LOC105369301
is asnp
is mentioned by
dbSNPrs143797113
dbSNP (old)rs143797113
ClinGenrs143797113
ebirs143797113
HLIrs143797113
Exacrs143797113
Gnomadrs143797113
Varsomers143797113
Maprs143797113
PheGenIrs143797113
Biobankrs143797113
1000 genomesrs143797113
hgdprs143797113
ensemblrs143797113
gopubmedrs143797113
geneviewrs143797113
scholarrs143797113
googlers143797113
pharmgkbrs143797113
gwascentralrs143797113
openSNPrs143797113
23andMers143797113
23andMe allrs143797113
SNPshotrs143797113
SNPdbers143797113
MSV3drs143797113
GWAS Ctlgrs143797113
Max Magnitude6

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 27838790OA-icon.png]

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,