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rs587784247

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784247(A;A)
Make rs587784247(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2681762
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784247
ebirs587784247
HLIrs587784247
Exacrs587784247
Varsomers587784247
Maprs587784247
PheGenIrs587784247
hapmaprs587784247
1000 genomesrs587784247
hgdprs587784247
ensemblrs587784247
gopubmedrs587784247
geneviewrs587784247
scholarrs587784247
googlers587784247
pharmgkbrs587784247
gwascentralrs587784247
openSNPrs587784247
23andMers587784247
23andMe allrs587784247
SNP Nexus

SNPshotrs587784247
SNPdbers587784247
MSV3drs587784247
GWAS Ctlgrs587784247
Max Magnitude0
ClinVar
Risk rs587784247(A;A)
Alt rs587784247(A;A)
Reference rs587784247(G;G)
Significance Probable-Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2585056G>A
CLNSRC
CLNACC RCV000147016.1,