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rs80356460

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAG;GAG) 0 common in clinvar
Make rs80356460(-;-)
Make rs80356460(-;GAG)
ReferenceGRCh38 38.1/141
Chromosome14
Position60648791
GeneSIX1
is asnp
is mentioned by
dbSNPrs80356460
ebirs80356460
HLIrs80356460
Exacrs80356460
Varsomers80356460
Maprs80356460
PheGenIrs80356460
hapmaprs80356460
1000 genomesrs80356460
hgdprs80356460
ensemblrs80356460
gopubmedrs80356460
geneviewrs80356460
scholarrs80356460
googlers80356460
pharmgkbrs80356460
gwascentralrs80356460
openSNPrs80356460
23andMers80356460
23andMe allrs80356460
SNP Nexus

SNPshotrs80356460
SNPdbers80356460
MSV3drs80356460
GWAS Ctlgrs80356460
Max Magnitude0
OMIM601205
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356460(;)
Alt rs80356460(;)
Reference rs80356460(GAG;GAG)
Significance Pathogenic
Disease Deafness Branchiootic syndrome 3
Variation info
Gene SIX1
CLNDBN Deafness, autosomal dominant 23 Branchiootic syndrome 3
Reversed 1
HGVS NC_000014.8:g.61115509_61115511delCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000008808.3, RCV000020636.1,


[PMID 10777717OA-icon.png] A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.


[PMID 15141091OA-icon.png] SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.