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rs515726151

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs515726151(G;G)
Make rs515726151(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position68296327
GenePIK3R1
is asnp
is mentioned by
dbSNPrs515726151
dbSNP (classic)rs515726151
ClinGenrs515726151
ebirs515726151
HLIrs515726151
Exacrs515726151
Gnomadrs515726151
Varsomers515726151
LitVarrs515726151
Maprs515726151
PheGenIrs515726151
Biobankrs515726151
1000 genomesrs515726151
hgdprs515726151
ensemblrs515726151
geneviewrs515726151
scholarrs515726151
googlers515726151
pharmgkbrs515726151
gwascentralrs515726151
openSNPrs515726151
23andMers515726151
SNPshotrs515726151
SNPdbers515726151
MSV3drs515726151
GWAS Ctlgrs515726151
Max Magnitude0
ClinVar
Risk rs515726151(G;G)
Alt rs515726151(G;G)
Reference Rs515726151(T;T)
Significance Pathogenic
Disease SHORT syndrome
Variation info
Gene PIK3R1
CLNDBN SHORT syndrome
Reversed 0
HGVS NC_000005.9:g.67592155T>G
CLNSRC
CLNACC RCV000202477.1,