Have questions? Visit https://www.reddit.com/r/SNPedia

rs6478078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(G;G) 0 common in clinvar
Make rs6478078(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position114404058
GeneDFNB31
is asnp
is mentioned by
dbSNPrs6478078
ebirs6478078
HLIrs6478078
Exacrs6478078
Varsomers6478078
Maprs6478078
PheGenIrs6478078
hapmaprs6478078
1000 genomesrs6478078
hgdprs6478078
ensemblrs6478078
gopubmedrs6478078
geneviewrs6478078
scholarrs6478078
googlers6478078
pharmgkbrs6478078
gwascentralrs6478078
openSNPrs6478078
23andMers6478078
23andMe allrs6478078
SNP Nexus

SNPshotrs6478078
SNPdbers6478078
MSV3drs6478078
GWAS Ctlgrs6478078
GMAF0.003673
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene DFNB31
allele C
frequency 1
sift
HuRef 1103652166715
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
Distance92


GET Evidence
DFNB31-H751Q
aa_change His751Gln
aa_change_short H751Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ClinVar
Risk rs6478078(C;C)
Alt rs6478078(C;C)
Reference rs6478078(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DFNB31
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.117166338G\x3d; NC_000009.11:g.117166338G>C
CLNSRC
CLNACC RCV000154362.1, RCV000038886.2,