Have questions? Visit https://www.reddit.com/r/SNPedia

rs13157656

From SNPedia

Orientationplus
Stabilizedplus
Make rs13157656(A;A)
Make rs13157656(A;C)
Make rs13157656(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position40964750
GeneC7
is asnp
is mentioned by
dbSNPrs13157656
ebirs13157656
HLIrs13157656
Exacrs13157656
Varsomers13157656
Maprs13157656
PheGenIrs13157656
hapmaprs13157656
1000 genomesrs13157656
hgdprs13157656
ensemblrs13157656
gopubmedrs13157656
geneviewrs13157656
scholarrs13157656
googlers13157656
pharmgkbrs13157656
gwascentralrs13157656
openSNPrs13157656
23andMers13157656
23andMe allrs13157656
SNP Nexus

SNPshotrs13157656
SNPdbers13157656
MSV3drs13157656
GWAS Ctlgrs13157656
GMAF0.1809
Max Magnitude
? (A;A) (A;C) (C;C) 28
Venter snp
Source plos
Gene C7
allele C
frequency 0.237
sift TOLERATED
HuRef 1103654083832
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-T587P
aa_change Thr587Pro
aa_change_short T587P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.18178
summary