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rs398122384

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398122384(-;-)
Make rs398122384(-;T)
Make rs398122384(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position68296299
GenePIK3R1
is asnp
is mentioned by
dbSNPrs398122384
ebirs398122384
HLIrs398122384
Exacrs398122384
Varsomers398122384
Maprs398122384
PheGenIrs398122384
hapmaprs398122384
1000 genomesrs398122384
hgdprs398122384
ensemblrs398122384
gopubmedrs398122384
geneviewrs398122384
scholarrs398122384
googlers398122384
pharmgkbrs398122384
gwascentralrs398122384
openSNPrs398122384
23andMers398122384
23andMe allrs398122384
SNP Nexus

SNPshotrs398122384
SNPdbers398122384
MSV3drs398122384
GWAS Ctlgrs398122384
Max Magnitude0
ClinVar
Risk rs398122384(T;T)
Alt rs398122384(T;T)
Reference rs398122384(;)
Significance Pathogenic
Disease SHORT syndrome
Variation info
Gene PIK3R1
CLNDBN SHORT syndrome
Reversed 0
HGVS NC_000005.9:g.67592127dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000054535.27,