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rs397514047

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514047(A;A)
Make rs397514047(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position68294575
GenePIK3R1
is asnp
is mentioned by
dbSNPrs397514047
ebirs397514047
HLIrs397514047
Exacrs397514047
Varsomers397514047
Maprs397514047
PheGenIrs397514047
hapmaprs397514047
1000 genomesrs397514047
hgdprs397514047
ensemblrs397514047
gopubmedrs397514047
geneviewrs397514047
scholarrs397514047
googlers397514047
pharmgkbrs397514047
gwascentralrs397514047
openSNPrs397514047
23andMers397514047
23andMe allrs397514047
SNP Nexus

SNPshotrs397514047
SNPdbers397514047
MSV3drs397514047
GWAS Ctlgrs397514047
Max Magnitude0
ClinVar
Risk rs397514047(A;A)
Alt rs397514047(A;A)
Reference rs397514047(G;G)
Significance Pathogenic
Disease SHORT syndrome
Variation info
Gene PIK3R1
CLNDBN SHORT syndrome
Reversed 0
HGVS NC_000005.9:g.67590403G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054533.22,