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rs4978584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs4978584(C;T)
Make rs4978584(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position114424432
GeneWHRN
is asnp
is mentioned by
dbSNPrs4978584
dbSNP (old)rs4978584
ClinGenrs4978584
ebirs4978584
HLIrs4978584
Exacrs4978584
Gnomadrs4978584
Varsomers4978584
Maprs4978584
PheGenIrs4978584
Biobankrs4978584
1000 genomesrs4978584
hgdprs4978584
ensemblrs4978584
gopubmedrs4978584
geneviewrs4978584
scholarrs4978584
googlers4978584
pharmgkbrs4978584
gwascentralrs4978584
openSNPrs4978584
23andMers4978584
23andMe allrs4978584
SNPshotrs4978584
SNPdbers4978584
MSV3drs4978584
GWAS Ctlgrs4978584
GMAF0.2383
Max Magnitude0
? (C;C) (C;T) (T;T) 28



ClinVar
Risk rs4978584(T;T)
Alt rs4978584(T;T)
Reference Rs4978584(C;C)
Significance Probable-non-pathogenic
Disease not specified Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome
Variation info
Gene WHRN DFNB31
CLNDBN not specified Nonsyndromic Hearing Loss, Recessive Retinitis pigmentosa-deafness syndrome
Reversed 0
HGVS NC_000009.11:g.117186712C>T
CLNSRC ClinVar Emory University
CLNACC RCV000038865.7, RCV000289765.1, RCV000347007.1,



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