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rs587784284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587784284(-;T)
Make rs587784284(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2674104
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784284
dbSNP (classic)rs587784284
ClinGenrs587784284
ebirs587784284
HLIrs587784284
Exacrs587784284
Gnomadrs587784284
Varsomers587784284
LitVarrs587784284
Maprs587784284
PheGenIrs587784284
Biobankrs587784284
1000 genomesrs587784284
hgdprs587784284
ensemblrs587784284
geneviewrs587784284
scholarrs587784284
googlers587784284
pharmgkbrs587784284
gwascentralrs587784284
openSNPrs587784284
23andMers587784284
SNPshotrs587784284
SNPdbers587784284
MSV3drs587784284
GWAS Ctlgrs587784284
Max Magnitude0
ClinVar
Risk rs587784284(T;T)
Alt rs587784284(T;T)
Reference Rs587784284(-;-)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2577398dupT
CLNSRC
CLNACC RCV000147058.1,