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rs587784240

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784240(-;-)
Make rs587784240(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2680261
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784240
dbSNP (classic)rs587784240
ClinGenrs587784240
ebirs587784240
HLIrs587784240
Exacrs587784240
Gnomadrs587784240
Varsomers587784240
LitVarrs587784240
Maprs587784240
PheGenIrs587784240
Biobankrs587784240
1000 genomesrs587784240
hgdprs587784240
ensemblrs587784240
geneviewrs587784240
scholarrs587784240
googlers587784240
pharmgkbrs587784240
gwascentralrs587784240
openSNPrs587784240
23andMers587784240
SNPshotrs587784240
SNPdbers587784240
MSV3drs587784240
GWAS Ctlgrs587784240
Max Magnitude0
ClinVar
Risk rs587784240(-;-)
Alt rs587784240(-;-)
Reference Rs587784240(A;A)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2583555delA
CLNSRC
CLNACC RCV000147009.1,