rs80356461

Orientation

minus

Stabilized

minus

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

Make rs80356461(A;A)

Make rs80356461(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45768373

Gene

SIX5

is a	snp
is	mentioned by
dbSNP	rs80356461
dbSNP (classic)	rs80356461
ClinGen	rs80356461
ebi	rs80356461
HLI	rs80356461
Exac	rs80356461
Gnomad	rs80356461
Varsome	rs80356461
LitVar	rs80356461
Map	rs80356461
PheGenI	rs80356461
Biobank	rs80356461
1000 genomes	rs80356461
hgdp	rs80356461
ensembl	rs80356461
geneview	rs80356461
scholar	rs80356461
google	rs80356461
pharmgkb	rs80356461
gwascentral	rs80356461
openSNP	rs80356461
23andMe	rs80356461
SNPshot	rs80356461
SNPdbe	rs80356461
MSV3d	rs80356461
GWAS Ctlg	rs80356461

Max Magnitude

0

OMIM	600963
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80356461(A;A)
Alt	rs80356461(A;A)
Reference	Rs80356461(G;G)
Significance	Pathogenic
Disease	Branchiootorenal syndrome 2
Variation	info
Gene	SIX5
CLNDBN	Branchiootorenal syndrome 2
Reversed	1
HGVS	NC_000019.9:g.46271631C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009129.4,

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