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rs10817610

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 0 common in complete genomics
Make rs10817610(C;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position114426286
GeneDFNB31
is asnp
is mentioned by
dbSNPrs10817610
ebirs10817610
HLIrs10817610
Exacrs10817610
Varsomers10817610
Maprs10817610
PheGenIrs10817610
hapmaprs10817610
1000 genomesrs10817610
hgdprs10817610
ensemblrs10817610
gopubmedrs10817610
geneviewrs10817610
scholarrs10817610
googlers10817610
pharmgkbrs10817610
gwascentralrs10817610
openSNPrs10817610
23andMers10817610
23andMe allrs10817610
SNP Nexus

SNPshotrs10817610
SNPdbers10817610
MSV3drs10817610
GWAS Ctlgrs10817610
GMAF0.01423
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene DFNB31
allele T
frequency 1
sift TOLERATED
HuRef 1103652166774
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 rs10817610(T;T)
Alt rs10817610(T;T)
Reference rs10817610(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DFNB31
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.117188566C\x3d; NC_000009.11:g.117188566C>T
CLNSRC ClinVar
CLNACC RCV000154365.1, RCV000038858.2,



GET Evidence
DFNB31-R364H
aa_change Arg364His
aa_change_short R364H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.980666
summary