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rs397509384

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509384(A;A)
Make rs397509384(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position68280983
GenePIK3R1
is asnp
is mentioned by
dbSNPrs397509384
dbSNP (classic)rs397509384
ClinGenrs397509384
ebirs397509384
HLIrs397509384
Exacrs397509384
Gnomadrs397509384
Varsomers397509384
LitVarrs397509384
Maprs397509384
PheGenIrs397509384
Biobankrs397509384
1000 genomesrs397509384
hgdprs397509384
ensemblrs397509384
geneviewrs397509384
scholarrs397509384
googlers397509384
pharmgkbrs397509384
gwascentralrs397509384
openSNPrs397509384
23andMers397509384
SNPshotrs397509384
SNPdbers397509384
MSV3drs397509384
GWAS Ctlgrs397509384
Max Magnitude0
ClinVar
Risk rs397509384(A;A)
Alt rs397509384(A;A)
Reference Rs397509384(G;G)
Significance Pathogenic
Disease Agammaglobulinemia 7
Variation info
Gene PIK3R1
CLNDBN Agammaglobulinemia 7, autosomal recessive
Reversed 0
HGVS NC_000005.9:g.67576811G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000041966.27,