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rs587777685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777685(A;C)
Make rs587777685(C;C)
ReferenceGRCh38 38.1/142
Chromosome8
Position47820870
GenePRKDC
is asnp
is mentioned by
dbSNPrs587777685
ebirs587777685
HLIrs587777685
Exacrs587777685
Varsomers587777685
Maprs587777685
PheGenIrs587777685
hapmaprs587777685
1000 genomesrs587777685
hgdprs587777685
ensemblrs587777685
gopubmedrs587777685
geneviewrs587777685
scholarrs587777685
googlers587777685
pharmgkbrs587777685
gwascentralrs587777685
openSNPrs587777685
23andMers587777685
23andMe allrs587777685
SNP Nexus

SNPshotrs587777685
SNPdbers587777685
MSV3drs587777685
GWAS Ctlgrs587777685
Max Magnitude0
ClinVar
Risk rs587777685(A,C;A,C)
Alt rs587777685(A,C;A,C)
Reference rs587777685(T;T)
Significance Pathogenic
Disease Immunodeficiency 26 without neurologic abnormalities
Variation info
Gene PRKDC
CLNDBN Immunodeficiency 26 without neurologic abnormalities
Reversed 1
HGVS NC_000008.10:g.48733431A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000142389.2,