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rs80356462

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356462(A;A)
Make rs80356462(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position45767073
GeneSIX5
is asnp
is mentioned by
dbSNPrs80356462
ebirs80356462
HLIrs80356462
Exacrs80356462
Varsomers80356462
Maprs80356462
PheGenIrs80356462
hapmaprs80356462
1000 genomesrs80356462
hgdprs80356462
ensemblrs80356462
gopubmedrs80356462
geneviewrs80356462
scholarrs80356462
googlers80356462
pharmgkbrs80356462
gwascentralrs80356462
openSNPrs80356462
23andMers80356462
23andMe allrs80356462
SNP Nexus

SNPshotrs80356462
SNPdbers80356462
MSV3drs80356462
GWAS Ctlgrs80356462
Max Magnitude0
OMIM600963
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80356462(A;A)
Alt rs80356462(A;A)
Reference rs80356462(G;G)
Significance Pathogenic
Disease Branchiootorenal syndrome 2
Variation info
Gene SIX5
CLNDBN Branchiootorenal syndrome 2
Reversed 1
HGVS NC_000019.9:g.46270331C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009130.3,


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