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rs652785

From SNPedia

Orientationminus
Stabilizedminus
Make rs652785(G;T)
Make rs652785(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position56875054
GeneC8A
is asnp
is mentioned by
dbSNPrs652785
ebirs652785
HLIrs652785
Exacrs652785
Varsomers652785
Maprs652785
PheGenIrs652785
hapmaprs652785
1000 genomesrs652785
hgdprs652785
ensemblrs652785
gopubmedrs652785
geneviewrs652785
scholarrs652785
googlers652785
pharmgkbrs652785
gwascentralrs652785
openSNPrs652785
23andMers652785
23andMe allrs652785
SNP Nexus

SNPshotrs652785
SNPdbers652785
MSV3drs652785
GWAS Ctlgrs652785
GMAF0.3278
Max Magnitude
? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene C8A
allele A
frequency 0.383
sift TOLERATED
HuRef 1103675100292
Disease Association Defects in C8A are a cause of complement C8 deficiency type I (MIM:120950). Patients with deficiency of C8 suffer from recurrent bacterial infections, predominantly from Neisseria meningitidis.



[PMID 15986317OA-icon.png] Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.

[PMID 20029952OA-icon.png] Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study.


GET Evidence
C8A-Q93K
aa_change Gln93Lys
aa_change_short Q93K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.31623
summary



ClinVar
Risk rs652785(T;T)
Alt rs652785(T;T)
Reference rs652785(G;G)
Significance Non-pathogenic
Disease COMPLEMENT COMPONENT 8
Variation info
Gene C8A
CLNDBN COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM
Reversed 1
HGVS NC_000001.10:g.57340727C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018567.2,