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rs942519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 0
Make rs942519(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position114406753
GeneDFNB31
is asnp
is mentioned by
dbSNPrs942519
ebirs942519
HLIrs942519
Exacrs942519
Varsomers942519
Maprs942519
PheGenIrs942519
hapmaprs942519
1000 genomesrs942519
hgdprs942519
ensemblrs942519
gopubmedrs942519
geneviewrs942519
scholarrs942519
googlers942519
pharmgkbrs942519
gwascentralrs942519
openSNPrs942519
23andMers942519
23andMe allrs942519
SNP Nexus

SNPshotrs942519
SNPdbers942519
MSV3drs942519
GWAS Ctlgrs942519
GMAF0.4876
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene DFNB31
allele G
frequency 0.43
sift TOLERATED
HuRef 1103652166722
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 rs942519(G;G)
Alt rs942519(G;G)
Reference rs942519(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DFNB31
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.117169033A>G
CLNSRC ClinVar Emory University
CLNACC RCV000038881.6,



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

[PMID 20583170OA-icon.png] Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.

[PMID 15841483] Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.


GET Evidence
DFNB31-M613T
aa_change Met613Thr
aa_change_short M613T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.492283
summary