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rs4978584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs4978584(C;T)
Make rs4978584(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position114424432
GeneDFNB31
is asnp
is mentioned by
dbSNPrs4978584
ebirs4978584
HLIrs4978584
Exacrs4978584
Varsomers4978584
Maprs4978584
PheGenIrs4978584
hapmaprs4978584
1000 genomesrs4978584
hgdprs4978584
ensemblrs4978584
gopubmedrs4978584
geneviewrs4978584
scholarrs4978584
googlers4978584
pharmgkbrs4978584
gwascentralrs4978584
openSNPrs4978584
23andMers4978584
23andMe allrs4978584
SNP Nexus

SNPshotrs4978584
SNPdbers4978584
MSV3drs4978584
GWAS Ctlgrs4978584
GMAF0.2383
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene DFNB31
allele T
frequency 0.3
sift TOLERATED
HuRef 1103652166759
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.



ClinVar
Risk rs4978584(T;T)
Alt rs4978584(T;T)
Reference rs4978584(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DFNB31
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.117186712C>T
CLNSRC ClinVar Emory University
CLNACC RCV000038865.6,



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


GET Evidence
DFNB31-A440T
aa_change Ala440Thr
aa_change_short A440T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.182469
summary