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rs80356459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356459(C;T)
Make rs80356459(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position60648862
GeneSIX1
is asnp
is mentioned by
dbSNPrs80356459
ebirs80356459
HLIrs80356459
Exacrs80356459
Varsomers80356459
Maprs80356459
PheGenIrs80356459
hapmaprs80356459
1000 genomesrs80356459
hgdprs80356459
ensemblrs80356459
gopubmedrs80356459
geneviewrs80356459
scholarrs80356459
googlers80356459
pharmgkbrs80356459
gwascentralrs80356459
openSNPrs80356459
23andMers80356459
23andMe allrs80356459
SNP Nexus

SNPshotrs80356459
SNPdbers80356459
MSV3drs80356459
GWAS Ctlgrs80356459
Max Magnitude0
OMIM601205
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356459(T;T)
Alt rs80356459(T;T)
Reference rs80356459(C;C)
Significance Pathogenic
Disease Branchiootic syndrome 3
Variation info
Gene SIX1
CLNDBN Branchiootic syndrome 3
Reversed 1
HGVS NC_000014.8:g.61115580G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008807.3,


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