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rs515726149

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs515726149(A;A)
Make rs515726149(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position68296248
GenePIK3R1
is asnp
is mentioned by
dbSNPrs515726149
ebirs515726149
HLIrs515726149
Exacrs515726149
Varsomers515726149
Maprs515726149
PheGenIrs515726149
hapmaprs515726149
1000 genomesrs515726149
hgdprs515726149
ensemblrs515726149
gopubmedrs515726149
geneviewrs515726149
scholarrs515726149
googlers515726149
pharmgkbrs515726149
gwascentralrs515726149
openSNPrs515726149
23andMers515726149
23andMe allrs515726149
SNP Nexus

SNPshotrs515726149
SNPdbers515726149
MSV3drs515726149
GWAS Ctlgrs515726149
Max Magnitude0
ClinVar
Risk rs515726149(A;A)
Alt rs515726149(A;A)
Reference rs515726149(G;G)
Significance Pathogenic
Disease SHORT syndrome
Variation info
Gene PIK3R1
CLNDBN SHORT syndrome
Reversed 0
HGVS NC_000005.9:g.67592076G>A
CLNSRC
CLNACC RCV000202555.1,