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

rs587784294

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784294(G;G)
Make rs587784294(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2676569
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784294
ebirs587784294
HLIrs587784294
Exacrs587784294
Varsomers587784294
Maprs587784294
PheGenIrs587784294
hapmaprs587784294
1000 genomesrs587784294
hgdprs587784294
ensemblrs587784294
gopubmedrs587784294
geneviewrs587784294
scholarrs587784294
googlers587784294
pharmgkbrs587784294
gwascentralrs587784294
openSNPrs587784294
23andMers587784294
23andMe allrs587784294
SNP Nexus

SNPshotrs587784294
SNPdbers587784294
MSV3drs587784294
GWAS Ctlgrs587784294
Max Magnitude0
ClinVar
Risk rs587784294(G;G)
Alt rs587784294(G;G)
Reference rs587784294(T;T)
Significance Probable-Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2579863T>G
CLNSRC
CLNACC RCV000147070.1,