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rs80356461

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356461(A;A)
Make rs80356461(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position45768373
GeneSIX5
is asnp
is mentioned by
dbSNPrs80356461
ebirs80356461
HLIrs80356461
Exacrs80356461
Varsomers80356461
Maprs80356461
PheGenIrs80356461
hapmaprs80356461
1000 genomesrs80356461
hgdprs80356461
ensemblrs80356461
gopubmedrs80356461
geneviewrs80356461
scholarrs80356461
googlers80356461
pharmgkbrs80356461
gwascentralrs80356461
openSNPrs80356461
23andMers80356461
23andMe allrs80356461
SNP Nexus

SNPshotrs80356461
SNPdbers80356461
MSV3drs80356461
GWAS Ctlgrs80356461
Max Magnitude0
OMIM600963
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356461(A;A)
Alt rs80356461(A;A)
Reference rs80356461(G;G)
Significance Pathogenic
Disease Branchiootorenal syndrome 2
Variation info
Gene SIX5
CLNDBN Branchiootorenal syndrome 2
Reversed 1
HGVS NC_000019.9:g.46271631C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009129.4,


[PMID 17357085OA-icon.png] Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.