rs80356747

Orientation

minus

Stabilized

minus

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

Make rs80356747(A;G)

Make rs80356747(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

101362718

Gene

BAAT

is a	snp
is	mentioned by
dbSNP	rs80356747
dbSNP (classic)	rs80356747
ClinGen	rs80356747
ebi	rs80356747
HLI	rs80356747
Exac	rs80356747
Gnomad	rs80356747
Varsome	rs80356747
LitVar	rs80356747
Map	rs80356747
PheGenI	rs80356747
Biobank	rs80356747
1000 genomes	rs80356747
hgdp	rs80356747
ensembl	rs80356747
geneview	rs80356747
scholar	rs80356747
google	rs80356747
pharmgkb	rs80356747
gwascentral	rs80356747
openSNP	rs80356747
23andMe	rs80356747
SNPshot	rs80356747
SNPdbe	rs80356747
MSV3d	rs80356747
GWAS Ctlg	rs80356747

Max Magnitude

0

ClinVar
Risk	rs80356747(G;G)
Alt	rs80356747(G;G)
Reference	Rs80356747(A;A)
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.104125000T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020464.1,

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