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rs587784289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784289(A;A)
Make rs587784289(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2674239
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784289
dbSNP (classic)rs587784289
ClinGenrs587784289
ebirs587784289
HLIrs587784289
Exacrs587784289
Gnomadrs587784289
Varsomers587784289
LitVarrs587784289
Maprs587784289
PheGenIrs587784289
Biobankrs587784289
1000 genomesrs587784289
hgdprs587784289
ensemblrs587784289
geneviewrs587784289
scholarrs587784289
googlers587784289
pharmgkbrs587784289
gwascentralrs587784289
openSNPrs587784289
23andMers587784289
SNPshotrs587784289
SNPdbers587784289
MSV3drs587784289
GWAS Ctlgrs587784289
Max Magnitude0
ClinVar
Risk rs587784289(A;A)
Alt rs587784289(A;A)
Reference Rs587784289(G;G)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2577533G>A
CLNSRC
CLNACC RCV000147065.1,