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rs797045063

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045063(C;C)
Make rs797045063(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position68294570
GenePIK3R1
is asnp
is mentioned by
dbSNPrs797045063
ebirs797045063
HLIrs797045063
Exacrs797045063
Varsomers797045063
Maprs797045063
PheGenIrs797045063
hapmaprs797045063
1000 genomesrs797045063
hgdprs797045063
ensemblrs797045063
gopubmedrs797045063
geneviewrs797045063
scholarrs797045063
googlers797045063
pharmgkbrs797045063
gwascentralrs797045063
openSNPrs797045063
23andMers797045063
23andMe allrs797045063
SNP Nexus

SNPshotrs797045063
SNPdbers797045063
MSV3drs797045063
GWAS Ctlgrs797045063
Max Magnitude0
ClinVar
Risk rs797045063(C;C)
Alt rs797045063(C;C)
Reference rs797045063(T;T)
Significance Probable-Pathogenic
Disease SHORT syndrome
Variation info
Gene PIK3R1
CLNDBN SHORT syndrome
Reversed 0
HGVS NC_000005.9:g.67590398T>C
CLNSRC Baylor College of Medicine
CLNACC RCV000191118.1,