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rs587784259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587784259(-;A)
Make rs587784259(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2667104
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784259
dbSNP (classic)rs587784259
ClinGenrs587784259
ebirs587784259
HLIrs587784259
Exacrs587784259
Gnomadrs587784259
Varsomers587784259
LitVarrs587784259
Maprs587784259
PheGenIrs587784259
Biobankrs587784259
1000 genomesrs587784259
hgdprs587784259
ensemblrs587784259
geneviewrs587784259
scholarrs587784259
googlers587784259
pharmgkbrs587784259
gwascentralrs587784259
openSNPrs587784259
23andMers587784259
SNPshotrs587784259
SNPdbers587784259
MSV3drs587784259
GWAS Ctlgrs587784259
Max Magnitude0
ClinVar
Risk rs587784259(A;A)
Alt rs587784259(A;A)
Reference Rs587784259(-;-)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2570398dupA
CLNSRC
CLNACC RCV000147029.1,