rs80356459

Orientation

minus

Stabilized

minus

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

Make rs80356459(C;T)

Make rs80356459(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

60648862

Gene

SIX1

is a	snp
is	mentioned by
dbSNP	rs80356459
dbSNP (classic)	rs80356459
ClinGen	rs80356459
ebi	rs80356459
HLI	rs80356459
Exac	rs80356459
Gnomad	rs80356459
Varsome	rs80356459
LitVar	rs80356459
Map	rs80356459
PheGenI	rs80356459
Biobank	rs80356459
1000 genomes	rs80356459
hgdp	rs80356459
ensembl	rs80356459
geneview	rs80356459
scholar	rs80356459
google	rs80356459
pharmgkb	rs80356459
gwascentral	rs80356459
openSNP	rs80356459
23andMe	rs80356459
SNPshot	rs80356459
SNPdbe	rs80356459
MSV3d	rs80356459
GWAS Ctlg	rs80356459

Max Magnitude

0

OMIM	601205
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80356459(T;T)
Alt	rs80356459(T;T)
Reference	Rs80356459(C;C)
Significance	Pathogenic
Disease	Branchiootic syndrome 3
Variation	info
Gene	SIX1
CLNDBN	Branchiootic syndrome 3
Reversed	1
HGVS	NC_000014.8:g.61115580G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008807.3,

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