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rs515726150

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs515726150(-;-)
Make rs515726150(-;AA)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position68296262
GenePIK3R1
is asnp
is mentioned by
dbSNPrs515726150
dbSNP (classic)rs515726150
ClinGenrs515726150
ebirs515726150
HLIrs515726150
Exacrs515726150
Gnomadrs515726150
Varsomers515726150
LitVarrs515726150
Maprs515726150
PheGenIrs515726150
Biobankrs515726150
1000 genomesrs515726150
hgdprs515726150
ensemblrs515726150
geneviewrs515726150
scholarrs515726150
googlers515726150
pharmgkbrs515726150
gwascentralrs515726150
openSNPrs515726150
23andMers515726150
SNPshotrs515726150
SNPdbers515726150
MSV3drs515726150
GWAS Ctlgrs515726150
Max Magnitude0
ClinVar
Risk rs515726150(-;-)
Alt rs515726150(-;-)
Reference Rs515726150(AA;AA)
Significance Pathogenic
Disease SHORT syndrome
Variation info
Gene PIK3R1
CLNDBN SHORT syndrome
Reversed 0
HGVS NC_000005.9:g.67592090_67592091delAA
CLNSRC
CLNACC RCV000202470.1,