rs80356746

Orientation

minus

Stabilized

minus

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

Make rs80356746(C;G)

Make rs80356746(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

101362827

Gene

BAAT

is a	snp
is	mentioned by
dbSNP	rs80356746
dbSNP (classic)	rs80356746
ClinGen	rs80356746
ebi	rs80356746
HLI	rs80356746
Exac	rs80356746
Gnomad	rs80356746
Varsome	rs80356746
LitVar	rs80356746
Map	rs80356746
PheGenI	rs80356746
Biobank	rs80356746
1000 genomes	rs80356746
hgdp	rs80356746
ensembl	rs80356746
geneview	rs80356746
scholar	rs80356746
google	rs80356746
pharmgkb	rs80356746
gwascentral	rs80356746
openSNP	rs80356746
23andMe	rs80356746
SNPshot	rs80356746
SNPdbe	rs80356746
MSV3d	rs80356746
GWAS Ctlg	rs80356746

Max Magnitude

0

ClinVar
Risk	rs80356746(G;G)
Alt	rs80356746(G;G)
Reference	Rs80356746(C;C)
Significance	Pathogenic
Disease	Atypical hemolytic-uremic syndrome 1
Variation	info
Gene	BAAT
CLNDBN	Atypical hemolytic-uremic syndrome 1
Reversed	1
HGVS	NC_000009.11:g.104125109G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020463.1,

[PMID 17182750] Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.