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

rs587784288

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784288(C;C)
Make rs587784288(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2674229
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784288
ebirs587784288
HLIrs587784288
Exacrs587784288
Varsomers587784288
Maprs587784288
PheGenIrs587784288
hapmaprs587784288
1000 genomesrs587784288
hgdprs587784288
ensemblrs587784288
gopubmedrs587784288
geneviewrs587784288
scholarrs587784288
googlers587784288
pharmgkbrs587784288
gwascentralrs587784288
openSNPrs587784288
23andMers587784288
23andMe allrs587784288
SNP Nexus

SNPshotrs587784288
SNPdbers587784288
MSV3drs587784288
GWAS Ctlgrs587784288
Max Magnitude0
ClinVar
Risk rs587784288(C;C)
Alt rs587784288(C;C)
Reference rs587784288(T;T)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2577523T>C
CLNSRC
CLNACC RCV000147063.1,