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rs398122868

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398122868(-;-)
Make rs398122868(-;GGCTGTG)
Make rs398122868(GGCTGTG;GGCTGTG)
ReferenceGRCh38 38.1/141
Chromosome1
Position56945878
GeneC8B
is asnp
is mentioned by
dbSNPrs398122868
ebirs398122868
HLIrs398122868
Exacrs398122868
Varsomers398122868
Maprs398122868
PheGenIrs398122868
hapmaprs398122868
1000 genomesrs398122868
hgdprs398122868
ensemblrs398122868
gopubmedrs398122868
geneviewrs398122868
scholarrs398122868
googlers398122868
pharmgkbrs398122868
gwascentralrs398122868
openSNPrs398122868
23andMers398122868
23andMe allrs398122868
SNP Nexus

SNPshotrs398122868
SNPdbers398122868
MSV3drs398122868
GWAS Ctlgrs398122868
Max Magnitude0
ClinVar
Risk rs398122868(GGCTGTG;GGCTGTG)
Alt rs398122868(GGCTGTG;GGCTGTG)
Reference rs398122868(;)
Significance Pathogenic
Disease Complement component 8 deficiency type 2
Variation info
Gene C8B
CLNDBN Complement component 8 deficiency type 2
Reversed 1
HGVS NC_000001.10:g.57411552_57411558dupCACAGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000029242.23,