Have questions? Visit https://www.reddit.com/r/SNPedia

rs587784325

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784325(C;T)
Make rs587784325(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position68293187
GenePIK3R1
is asnp
is mentioned by
dbSNPrs587784325
ebirs587784325
HLIrs587784325
Exacrs587784325
Varsomers587784325
Maprs587784325
PheGenIrs587784325
hapmaprs587784325
1000 genomesrs587784325
hgdprs587784325
ensemblrs587784325
gopubmedrs587784325
geneviewrs587784325
scholarrs587784325
googlers587784325
pharmgkbrs587784325
gwascentralrs587784325
openSNPrs587784325
23andMers587784325
23andMe allrs587784325
SNP Nexus

SNPshotrs587784325
SNPdbers587784325
MSV3drs587784325
GWAS Ctlgrs587784325
Max Magnitude0
ClinVar
Risk rs587784325(T;T)
Alt rs587784325(T;T)
Reference rs587784325(C;C)
Significance Probable-Pathogenic
Disease SHORT syndrome
Variation info
Gene PIK3R1
CLNDBN SHORT syndrome
Reversed 0
HGVS NC_000005.9:g.67589015C>T
CLNSRC
CLNACC RCV000147273.1,