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rs1063499

From SNPedia

Orientationminus
Stabilizedminus
Make rs1063499(C;C)
Make rs1063499(C;G)
Make rs1063499(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position40955459
GeneC7
is asnp
is mentioned by
dbSNPrs1063499
ebirs1063499
HLIrs1063499
Exacrs1063499
Varsomers1063499
Maprs1063499
PheGenIrs1063499
hapmaprs1063499
1000 genomesrs1063499
hgdprs1063499
ensemblrs1063499
gopubmedrs1063499
geneviewrs1063499
scholarrs1063499
googlers1063499
pharmgkbrs1063499
gwascentralrs1063499
openSNPrs1063499
23andMers1063499
23andMe allrs1063499
SNP Nexus

SNPshotrs1063499
SNPdbers1063499
MSV3drs1063499
GWAS Ctlgrs1063499
GMAF0.4894
Max Magnitude
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene C7
allele C
frequency 0.6
sift TOLERATED
HuRef 1103654083810
Disease Association Defects in C7 are a cause of component C7 deficiency (C7D) (MIM:217070). Patients with C7D suffer from recurrent bacterial infections, predominantly from Neisseria meningitidis.



[PMID 19221116OA-icon.png] Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.


[PMID 19344414OA-icon.png] Risk of non-Hodgkin lymphoma in association with germline variation in complement genes.


GET Evidence
C7-S389T
aa_change Ser389Thr
aa_change_short S389T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.526127
summary