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rs587777686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777686(A;A)
Make rs587777686(A;G)
ReferenceGRCh38 38.1/142
Chromosome8
Position47789188
GenePRKDC
is asnp
is mentioned by
dbSNPrs587777686
ebirs587777686
HLIrs587777686
Exacrs587777686
Varsomers587777686
Maprs587777686
PheGenIrs587777686
hapmaprs587777686
1000 genomesrs587777686
hgdprs587777686
ensemblrs587777686
gopubmedrs587777686
geneviewrs587777686
scholarrs587777686
googlers587777686
pharmgkbrs587777686
gwascentralrs587777686
openSNPrs587777686
23andMers587777686
23andMe allrs587777686
SNP Nexus

SNPshotrs587777686
SNPdbers587777686
MSV3drs587777686
GWAS Ctlgrs587777686
Max Magnitude0
ClinVar
Risk rs587777686(A,G;A,G)
Alt rs587777686(A,G;A,G)
Reference rs587777686(C;C)
Significance Pathogenic
Disease Immunodeficiency 26 with or without neurologic abnormalities
Variation info
Gene PRKDC
CLNDBN Immunodeficiency 26 with or without neurologic abnormalities
Reversed 1
HGVS NC_000008.10:g.48701749G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000142390.4,