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rs398122385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398122385(-;-)
Make rs398122385(-;C)
Make rs398122385(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position68296262
GenePIK3R1
is asnp
is mentioned by
dbSNPrs398122385
ebirs398122385
HLIrs398122385
Exacrs398122385
Varsomers398122385
Maprs398122385
PheGenIrs398122385
hapmaprs398122385
1000 genomesrs398122385
hgdprs398122385
ensemblrs398122385
gopubmedrs398122385
geneviewrs398122385
scholarrs398122385
googlers398122385
pharmgkbrs398122385
gwascentralrs398122385
openSNPrs398122385
23andMers398122385
23andMe allrs398122385
SNP Nexus

SNPshotrs398122385
SNPdbers398122385
MSV3drs398122385
GWAS Ctlgrs398122385
Max Magnitude0
ClinVar
Risk rs398122385(C;C)
Alt rs398122385(C;C)
Reference rs398122385(;)
Significance Pathogenic
Disease SHORT syndrome
Variation info
Gene PIK3R1
CLNDBN SHORT syndrome
Reversed 0
HGVS NC_000005.9:g.67592090_67592091insC
CLNSRC OMIM Allelic Variant
CLNACC RCV000054536.26,