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rs146187042

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs146187042(A;A)
Make rs146187042(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position56956889
GeneC8B
is asnp
is mentioned by
dbSNPrs146187042
dbSNP (classic)rs146187042
ClinGenrs146187042
ebirs146187042
HLIrs146187042
Exacrs146187042
Gnomadrs146187042
Varsomers146187042
LitVarrs146187042
Maprs146187042
PheGenIrs146187042
Biobankrs146187042
1000 genomesrs146187042
hgdprs146187042
ensemblrs146187042
geneviewrs146187042
scholarrs146187042
googlers146187042
pharmgkbrs146187042
gwascentralrs146187042
openSNPrs146187042
23andMers146187042
SNPshotrs146187042
SNPdbers146187042
MSV3drs146187042
GWAS Ctlgrs146187042
Max Magnitude0
ClinVar
Risk rs146187042(A;A)
Alt rs146187042(A;A)
Reference Rs146187042(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.57422562G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029239.27,