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rs41286844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs41286844(A;A)
Make rs41286844(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position56940965
GeneC8B
is asnp
is mentioned by
dbSNPrs41286844
dbSNP (classic)rs41286844
ClinGenrs41286844
ebirs41286844
HLIrs41286844
Exacrs41286844
Gnomadrs41286844
Varsomers41286844
LitVarrs41286844
Maprs41286844
PheGenIrs41286844
Biobankrs41286844
1000 genomesrs41286844
hgdprs41286844
ensemblrs41286844
geneviewrs41286844
scholarrs41286844
googlers41286844
pharmgkbrs41286844
gwascentralrs41286844
openSNPrs41286844
23andMers41286844
SNPshotrs41286844
SNPdbers41286844
MSV3drs41286844
GWAS Ctlgrs41286844
GMAF0.001377
Max Magnitude0
OMIM120960
Desc
Variant0001
Relatedalso


ClinVar
Risk rs41286844(A;A)
Alt rs41286844(A;A)
Reference Rs41286844(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.57406638G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018566.27,