rs80356460

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GAG;GAG)	0	common in clinvar

Make rs80356460(-;-)

Make rs80356460(-;GAG)

Reference

GRCh38 38.1/141

Chromosome

14

Position

60648791

Gene

SIX1

is a	snp
is	mentioned by
dbSNP	rs80356460
dbSNP (classic)	rs80356460
ClinGen	rs80356460
ebi	rs80356460
HLI	rs80356460
Exac	rs80356460
Gnomad	rs80356460
Varsome	rs80356460
LitVar	rs80356460
Map	rs80356460
PheGenI	rs80356460
Biobank	rs80356460
1000 genomes	rs80356460
hgdp	rs80356460
ensembl	rs80356460
geneview	rs80356460
scholar	rs80356460
google	rs80356460
pharmgkb	rs80356460
gwascentral	rs80356460
openSNP	rs80356460
23andMe	rs80356460
SNPshot	rs80356460
SNPdbe	rs80356460
MSV3d	rs80356460
GWAS Ctlg	rs80356460

Max Magnitude

0

OMIM	601205
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80356460(-;-)
Alt	rs80356460(-;-)
Reference	Rs80356460(GAG;GAG)
Significance	Pathogenic
Disease	Deafness Branchiootic syndrome 3
Variation	info
Gene	SIX1
CLNDBN	Deafness, autosomal dominant 23 Branchiootic syndrome 3
Reversed	1
HGVS	NC_000014.8:g.61115509_61115511delCTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008808.3, RCV000020636.1,

[PMID 10777717] A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.

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