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rs2274159

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 0
Make rs2274159(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position114403966
GeneDFNB31
is asnp
is mentioned by
dbSNPrs2274159
ebirs2274159
HLIrs2274159
Exacrs2274159
Varsomers2274159
Maprs2274159
PheGenIrs2274159
hapmaprs2274159
1000 genomesrs2274159
hgdprs2274159
ensemblrs2274159
gopubmedrs2274159
geneviewrs2274159
scholarrs2274159
googlers2274159
pharmgkbrs2274159
gwascentralrs2274159
openSNPrs2274159
23andMers2274159
23andMe allrs2274159
SNP Nexus

SNPshotrs2274159
SNPdbers2274159
MSV3drs2274159
GWAS Ctlgrs2274159
GMAF0.4219
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene DFNB31
allele G
frequency 0.483
sift TOLERATED
HuRef 1103652166704
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.



Neighborrs2274158
Distance40
Neighborrs6478078
Distance92


[PMID 21239504] Novel Chemosensitive Single-Nucleotide Polymorphism Markers to Targeted Regimens in Metastatic Colorectal Cancer


ClinVar
Risk rs2274159(G;G)
Alt rs2274159(G;G)
Reference rs2274159(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DFNB31
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.117166246A>G
CLNSRC ClinVar
CLNACC RCV000038890.2,



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


[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-V783A
aa_change Val783Ala
aa_change_short V783A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.412065
summary