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rs397515453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515453(C;T)
Make rs397515453(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position68296301
GenePIK3R1
is asnp
is mentioned by
dbSNPrs397515453
ebirs397515453
HLIrs397515453
Exacrs397515453
Varsomers397515453
Maprs397515453
PheGenIrs397515453
hapmaprs397515453
1000 genomesrs397515453
hgdprs397515453
ensemblrs397515453
gopubmedrs397515453
geneviewrs397515453
scholarrs397515453
googlers397515453
pharmgkbrs397515453
gwascentralrs397515453
openSNPrs397515453
23andMers397515453
23andMe allrs397515453
SNP Nexus

SNPshotrs397515453
SNPdbers397515453
MSV3drs397515453
GWAS Ctlgrs397515453
Max Magnitude0
ClinVar
Risk rs397515453(T;T)
Alt rs397515453(T;T)
Reference rs397515453(C;C)
Significance Pathogenic
Disease SHORT syndrome
Variation info
Gene PIK3R1
CLNDBN SHORT syndrome
Reversed 0
HGVS NC_000005.9:g.67592129C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054534.29,