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rs12339210

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs12339210(C;C)
Make rs12339210(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position114407961
GeneDFNB31
is asnp
is mentioned by
dbSNPrs12339210
ebirs12339210
HLIrs12339210
Exacrs12339210
Varsomers12339210
Maprs12339210
PheGenIrs12339210
hapmaprs12339210
1000 genomesrs12339210
hgdprs12339210
ensemblrs12339210
gopubmedrs12339210
geneviewrs12339210
scholarrs12339210
googlers12339210
pharmgkbrs12339210
gwascentralrs12339210
openSNPrs12339210
23andMers12339210
23andMe allrs12339210
SNP Nexus

SNPshotrs12339210
SNPdbers12339210
MSV3drs12339210
GWAS Ctlgrs12339210
GMAF0.0652
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene DFNB31
allele C
frequency 0.158
sift
HuRef 1103652166719
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 rs12339210(C;C)
Alt rs12339210(C;C)
Reference rs12339210(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DFNB31
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.117170241G>C
CLNSRC ClinVar GeneDx
CLNACC RCV000038879.3,



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


GET Evidence
DFNB31-P562A
aa_change Pro562Ala
aa_change_short P562A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0910528
summary