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rs2274158

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2274158(G;T)
Make rs2274158(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position114403926
GeneDFNB31
is asnp
is mentioned by
dbSNPrs2274158
ClinGenrs2274158
ebirs2274158
HLIrs2274158
Exacrs2274158
Varsomers2274158
Maprs2274158
PheGenIrs2274158
hapmaprs2274158
1000 genomesrs2274158
hgdprs2274158
ensemblrs2274158
gopubmedrs2274158
geneviewrs2274158
scholarrs2274158
googlers2274158
pharmgkbrs2274158
gwascentralrs2274158
openSNPrs2274158
23andMers2274158
23andMe allrs2274158
SNP Nexus

SNPshotrs2274158
SNPdbers2274158
MSV3drs2274158
GWAS Ctlgrs2274158
GMAF0.2351
Max Magnitude0
? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene DFNB31
allele T
frequency 0.3
sift
HuRef 1103652166703
Disease Association Defects in WHRN are a cause of autosomal recessive deafness type 31 (DFNB31) (MIM:607084). This sensorineural hearing loss is bilateral and profound and manifests itself already in the prelingual period in early childhood.



Neighborrs2274159
Distance40


ClinVar
Risk rs2274158(A;A) rs2274158(C;C) rs2274158(T;T)
Alt rs2274158(A;A) rs2274158(C;C) rs2274158(T;T)
Reference Rs2274158(G;G)
Significance Probable-non-pathogenic
Disease not specified Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome
Variation info
Gene WHRN DFNB31
CLNDBN not specified Nonsyndromic Hearing Loss, Recessive Retinitis pigmentosa-deafness syndrome
Reversed 0
HGVS NC_000009.11:g.117166206G>T
CLNSRC ClinVar
CLNACC RCV000038892.3, RCV000334982.1, RCV000391015.1,



[PMID 20352026OA-icon.png] Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.


GET Evidence
DFNB31-N796K
aa_change Asn796Lys
aa_change_short N796K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.18126
summary