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rs1013579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(T;T) 0
Make rs1013579(A;G)
Make rs1013579(G;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position56956811
GeneC8B
is asnp
is mentioned by
dbSNPrs1013579
ebirs1013579
HLIrs1013579
Exacrs1013579
Varsomers1013579
Maprs1013579
PheGenIrs1013579
hapmaprs1013579
1000 genomesrs1013579
hgdprs1013579
ensemblrs1013579
gopubmedrs1013579
geneviewrs1013579
scholarrs1013579
googlers1013579
pharmgkbrs1013579
gwascentralrs1013579
openSNPrs1013579
23andMers1013579
23andMe allrs1013579
SNP Nexus

SNPshotrs1013579
SNPdbers1013579
MSV3drs1013579
GWAS Ctlgrs1013579
GMAF0.01882
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene C8B
allele T
frequency 0.95
sift TOLERATED
HuRef 1103675100407
Disease Association Defects in C8B are a cause of complement C8 deficiency type II (MIM:120960). Patients with deficiency of C8 suffer from recurrent bacterial infections, predominantly from Neisseria meningitidis.



GET Evidence
C8B-G117R
aa_change Gly117Arg
aa_change_short G117R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.97546
summary