rs80356462

Orientation

minus

Stabilized

minus

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

Make rs80356462(A;A)

Make rs80356462(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45767073

Gene

SIX5

is a	snp
is	mentioned by
dbSNP	rs80356462
dbSNP (classic)	rs80356462
ClinGen	rs80356462
ebi	rs80356462
HLI	rs80356462
Exac	rs80356462
Gnomad	rs80356462
Varsome	rs80356462
LitVar	rs80356462
Map	rs80356462
PheGenI	rs80356462
Biobank	rs80356462
1000 genomes	rs80356462
hgdp	rs80356462
ensembl	rs80356462
geneview	rs80356462
scholar	rs80356462
google	rs80356462
pharmgkb	rs80356462
gwascentral	rs80356462
openSNP	rs80356462
23andMe	rs80356462
SNPshot	rs80356462
SNPdbe	rs80356462
MSV3d	rs80356462
GWAS Ctlg	rs80356462

Max Magnitude

0

OMIM	600963
Desc
Variant	0002
Related	also

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 UniProtKB (protein)
CLNACC	RCV000009130.4,

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