Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356463(A;A)
Make rs80356463(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position45766866
GeneSIX5
is asnp
is mentioned by
dbSNPrs80356463
ebirs80356463
HLIrs80356463
Exacrs80356463
Varsomers80356463
Maprs80356463
PheGenIrs80356463
hapmaprs80356463
1000 genomesrs80356463
hgdprs80356463
ensemblrs80356463
gopubmedrs80356463
geneviewrs80356463
scholarrs80356463
googlers80356463
pharmgkbrs80356463
gwascentralrs80356463
openSNPrs80356463
23andMers80356463
23andMe allrs80356463
SNP Nexus

SNPshotrs80356463
SNPdbers80356463
MSV3drs80356463
GWAS Ctlgrs80356463
Max Magnitude0
OMIM600963
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356463(A;A)
Alt rs80356463(A;A)
Reference rs80356463(G;G)
Significance Pathogenic
Disease Branchiootorenal syndrome 2
Variation info
Gene SIX5
CLNDBN Branchiootorenal syndrome 2
Reversed 1
HGVS NC_000019.9:g.46270124C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009131.3,


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