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

rs587784252

From SNPedia

Orientationplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs587784252(-;-)
Make rs587784252(-;AA)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2666034
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784252
ebirs587784252
HLIrs587784252
Exacrs587784252
Varsomers587784252
Maprs587784252
PheGenIrs587784252
hapmaprs587784252
1000 genomesrs587784252
hgdprs587784252
ensemblrs587784252
gopubmedrs587784252
geneviewrs587784252
scholarrs587784252
googlers587784252
pharmgkbrs587784252
gwascentralrs587784252
openSNPrs587784252
23andMers587784252
23andMe allrs587784252
SNP Nexus

SNPshotrs587784252
SNPdbers587784252
MSV3drs587784252
GWAS Ctlgrs587784252
Max Magnitude0
ClinVar
Risk rs587784252(;)
Alt rs587784252(;)
Reference rs587784252(AA;AA)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2569328_2569329delAA
CLNSRC
CLNACC RCV000147021.1,