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rs786204841

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 Deafness; early-onset (prelingual)
(A;G) 3 Carrier of a deafness mutation
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position36461002
GeneCLDN14, LOC105369301
is asnp
is mentioned by
dbSNPrs786204841
dbSNP (old)rs786204841
ClinGenrs786204841
ebirs786204841
HLIrs786204841
Exacrs786204841
Gnomadrs786204841
Varsomers786204841
Maprs786204841
PheGenIrs786204841
Biobankrs786204841
1000 genomesrs786204841
hgdprs786204841
ensemblrs786204841
gopubmedrs786204841
geneviewrs786204841
scholarrs786204841
googlers786204841
pharmgkbrs786204841
gwascentralrs786204841
openSNPrs786204841
23andMers786204841
23andMe allrs786204841
SNP Nexus

SNPshotrs786204841
SNPdbers786204841
MSV3drs786204841
GWAS Ctlgrs786204841
Max Magnitude6

rs786204841, also known as c.694G>A, p.Gly232Arg and G232R, 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 Rs786204841(A;A)
Alt Rs786204841(A;A)
Reference Rs786204841(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene CLDN14
CLNDBN Deafness, autosomal recessive 29
Reversed 1
HGVS NC_000021.8:g.37833300C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000169749.3,