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rs80356746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356746(C;G)
Make rs80356746(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position101362827
GeneBAAT
is asnp
is mentioned by
dbSNPrs80356746
ebirs80356746
HLIrs80356746
Exacrs80356746
Varsomers80356746
Maprs80356746
PheGenIrs80356746
hapmaprs80356746
1000 genomesrs80356746
hgdprs80356746
ensemblrs80356746
gopubmedrs80356746
geneviewrs80356746
scholarrs80356746
googlers80356746
pharmgkbrs80356746
gwascentralrs80356746
openSNPrs80356746
23andMers80356746
23andMe allrs80356746
SNP Nexus

SNPshotrs80356746
SNPdbers80356746
MSV3drs80356746
GWAS Ctlgrs80356746
Max Magnitude0
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 17182750OA-icon.png] Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.