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rs587784238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784238(-;-)
Make rs587784238(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2680224
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784238
dbSNP (classic)rs587784238
ClinGenrs587784238
ebirs587784238
HLIrs587784238
Exacrs587784238
Gnomadrs587784238
Varsomers587784238
LitVarrs587784238
Maprs587784238
PheGenIrs587784238
Biobankrs587784238
1000 genomesrs587784238
hgdprs587784238
ensemblrs587784238
geneviewrs587784238
scholarrs587784238
googlers587784238
pharmgkbrs587784238
gwascentralrs587784238
openSNPrs587784238
23andMers587784238
SNPshotrs587784238
SNPdbers587784238
MSV3drs587784238
GWAS Ctlgrs587784238
Max Magnitude0
ClinVar
Risk rs587784238(-;-)
Alt rs587784238(-;-)
Reference Rs587784238(A;A)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2583518delA
CLNSRC
CLNACC RCV000147007.1,