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rs587777624

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777624(C;C)
Make rs587777624(C;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position18163059
GenePIK3R2
is asnp
is mentioned by
dbSNPrs587777624
ebirs587777624
HLIrs587777624
Exacrs587777624
Varsomers587777624
Maprs587777624
PheGenIrs587777624
hapmaprs587777624
1000 genomesrs587777624
hgdprs587777624
ensemblrs587777624
gopubmedrs587777624
geneviewrs587777624
scholarrs587777624
googlers587777624
pharmgkbrs587777624
gwascentralrs587777624
openSNPrs587777624
23andMers587777624
23andMe allrs587777624
SNP Nexus

SNPshotrs587777624
SNPdbers587777624
MSV3drs587777624
GWAS Ctlgrs587777624
Max Magnitude0
ClinVar
Risk rs587777624(C;C)
Alt rs587777624(C;C)
Reference rs587777624(T;T)
Significance Pathogenic
Disease Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Variation info
Gene PIK3R2
CLNDBN Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Reversed 0
HGVS NC_000019.9:g.18273869T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000133505.2,