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rs397514046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATT;ATT) 0 common in clinvar
Make rs397514046(-;-)
Make rs397514046(-;ATT)
ReferenceGRCh38 38.1/141
Chromosome5
Position68295194
GenePIK3R1
is asnp
is mentioned by
dbSNPrs397514046
ebirs397514046
HLIrs397514046
Exacrs397514046
Varsomers397514046
Maprs397514046
PheGenIrs397514046
hapmaprs397514046
1000 genomesrs397514046
hgdprs397514046
ensemblrs397514046
gopubmedrs397514046
geneviewrs397514046
scholarrs397514046
googlers397514046
pharmgkbrs397514046
gwascentralrs397514046
openSNPrs397514046
23andMers397514046
23andMe allrs397514046
SNP Nexus

SNPshotrs397514046
SNPdbers397514046
MSV3drs397514046
GWAS Ctlgrs397514046
Max Magnitude0
ClinVar
Risk rs397514046(;)
Alt rs397514046(;)
Reference rs397514046(ATT;ATT)
Significance Pathogenic
Disease SHORT syndrome
Variation info
Gene PIK3R1
CLNDBN SHORT syndrome
Reversed 0
HGVS NC_000005.9:g.67591022_67591024delATT
CLNSRC OMIM Allelic Variant
CLNACC RCV000054532.22,