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rs80356747

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356747(A;G)
Make rs80356747(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position101362718
GeneBAAT
is asnp
is mentioned by
dbSNPrs80356747
ebirs80356747
HLIrs80356747
Exacrs80356747
Varsomers80356747
Maprs80356747
PheGenIrs80356747
hapmaprs80356747
1000 genomesrs80356747
hgdprs80356747
ensemblrs80356747
gopubmedrs80356747
geneviewrs80356747
scholarrs80356747
googlers80356747
pharmgkbrs80356747
gwascentralrs80356747
openSNPrs80356747
23andMers80356747
23andMe allrs80356747
SNP Nexus

SNPshotrs80356747
SNPdbers80356747
MSV3drs80356747
GWAS Ctlgrs80356747
Max Magnitude0
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 17182750OA-icon.png] Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.