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rs140813121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140813121(A;A)
Make rs140813121(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position56949599
GeneC8B
is asnp
is mentioned by
dbSNPrs140813121
ebirs140813121
HLIrs140813121
Exacrs140813121
Varsomers140813121
Maprs140813121
PheGenIrs140813121
hapmaprs140813121
1000 genomesrs140813121
hgdprs140813121
ensemblrs140813121
gopubmedrs140813121
geneviewrs140813121
scholarrs140813121
googlers140813121
pharmgkbrs140813121
gwascentralrs140813121
openSNPrs140813121
23andMers140813121
23andMe allrs140813121
SNP Nexus

SNPshotrs140813121
SNPdbers140813121
MSV3drs140813121
GWAS Ctlgrs140813121
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs140813121(A;A)
Alt rs140813121(A;A)
Reference rs140813121(G;G)
Significance Pathogenic
Disease Complement component 8 deficiency type 2
Variation info
Gene C8B
CLNDBN Complement component 8 deficiency type 2
Reversed 0
HGVS NC_000001.10:g.57415272G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029237.27,