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rs587777687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777687(-;-)
Make rs587777687(-;T)
Make rs587777687(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position47931497
GenePRKDC
is asnp
is mentioned by
dbSNPrs587777687
ebirs587777687
HLIrs587777687
Exacrs587777687
Varsomers587777687
Maprs587777687
PheGenIrs587777687
hapmaprs587777687
1000 genomesrs587777687
hgdprs587777687
ensemblrs587777687
gopubmedrs587777687
geneviewrs587777687
scholarrs587777687
googlers587777687
pharmgkbrs587777687
gwascentralrs587777687
openSNPrs587777687
23andMers587777687
23andMe allrs587777687
SNP Nexus

SNPshotrs587777687
SNPdbers587777687
MSV3drs587777687
GWAS Ctlgrs587777687
Max Magnitude0
ClinVar
Risk rs587777687(T;T)
Alt rs587777687(T;T)
Reference rs587777687(;)
Significance Pathogenic
Disease Immunodeficiency 26 with or without neurologic abnormalities
Variation info
Gene PRKDC
CLNDBN Immunodeficiency 26 with or without neurologic abnormalities
Reversed 0
HGVS NC_000008.10:g.48844057dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000142391.4,