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rs587784292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784292(-;-)
Make rs587784292(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2676514
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784292
dbSNP (classic)rs587784292
ClinGenrs587784292
ebirs587784292
HLIrs587784292
Exacrs587784292
Gnomadrs587784292
Varsomers587784292
LitVarrs587784292
Maprs587784292
PheGenIrs587784292
Biobankrs587784292
1000 genomesrs587784292
hgdprs587784292
ensemblrs587784292
geneviewrs587784292
scholarrs587784292
googlers587784292
pharmgkbrs587784292
gwascentralrs587784292
openSNPrs587784292
23andMers587784292
SNPshotrs587784292
SNPdbers587784292
MSV3drs587784292
GWAS Ctlgrs587784292
Max Magnitude0
ClinVar
Risk rs587784292(-;-)
Alt rs587784292(-;-)
Reference Rs587784292(A;A)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2579808delA
CLNSRC
CLNACC RCV000147068.1,