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

rs587784242

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784242(C;T)
Make rs587784242(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2680296
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784242
ebirs587784242
HLIrs587784242
Exacrs587784242
Varsomers587784242
Maprs587784242
PheGenIrs587784242
hapmaprs587784242
1000 genomesrs587784242
hgdprs587784242
ensemblrs587784242
gopubmedrs587784242
geneviewrs587784242
scholarrs587784242
googlers587784242
pharmgkbrs587784242
gwascentralrs587784242
openSNPrs587784242
23andMers587784242
23andMe allrs587784242
SNP Nexus

SNPshotrs587784242
SNPdbers587784242
MSV3drs587784242
GWAS Ctlgrs587784242
Max Magnitude0
ClinVar
Risk rs587784242(T;T)
Alt rs587784242(T;T)
Reference rs587784242(C;C)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2583590C>T
CLNSRC
CLNACC RCV000147011.1,