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rs368209619

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs368209619(-;-)
Make rs368209619(-;A)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position196995787
GeneCFHR5
is asnp
is mentioned by
dbSNPrs368209619
dbSNP (classic)rs368209619
ClinGenrs368209619
ebirs368209619
HLIrs368209619
Exacrs368209619
Gnomadrs368209619
Varsomers368209619
LitVarrs368209619
Maprs368209619
PheGenIrs368209619
Biobankrs368209619
1000 genomesrs368209619
hgdprs368209619
ensemblrs368209619
geneviewrs368209619
scholarrs368209619
googlers368209619
pharmgkbrs368209619
gwascentralrs368209619
openSNPrs368209619
23andMers368209619
SNPshotrs368209619
SNPdbers368209619
MSV3drs368209619
GWAS Ctlgrs368209619
Max Magnitude0
ClinVar
Risk rs368209619(-;-)
Alt rs368209619(-;-)
Reference Rs368209619(A;A)
Significance Pathogenic
Disease CFHR5 deficiency
Variation info
Gene CFHR5
CLNDBN CFHR5 deficiency
Reversed 0
HGVS NC_000001.10:g.196964917delA
CLNSRC University Hospital of Geneva
CLNACC RCV000211432.1,