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rs80356464

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356464(C;T)
Make rs80356464(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position45766066
GeneSIX5
is asnp
is mentioned by
dbSNPrs80356464
ebirs80356464
HLIrs80356464
Exacrs80356464
Varsomers80356464
Maprs80356464
PheGenIrs80356464
hapmaprs80356464
1000 genomesrs80356464
hgdprs80356464
ensemblrs80356464
gopubmedrs80356464
geneviewrs80356464
scholarrs80356464
googlers80356464
pharmgkbrs80356464
gwascentralrs80356464
openSNPrs80356464
23andMers80356464
23andMe allrs80356464
SNP Nexus

SNPshotrs80356464
SNPdbers80356464
MSV3drs80356464
GWAS Ctlgrs80356464
GMAF0.0004591
Max Magnitude0
OMIM600963
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80356464(A,T;A,T)
Alt rs80356464(A,T;A,T)
Reference rs80356464(C;C)
Significance Other
Disease Branchiootorenal syndrome 2
Variation info
Gene SIX5
CLNDBN Branchiootorenal syndrome 2
Reversed 1
HGVS NC_000019.9:g.46269324G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009132.5,


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