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rs587784273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784273(C;G)
Make rs587784273(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2672718
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784273
dbSNP (classic)rs587784273
ClinGenrs587784273
ebirs587784273
HLIrs587784273
Exacrs587784273
Gnomadrs587784273
Varsomers587784273
LitVarrs587784273
Maprs587784273
PheGenIrs587784273
Biobankrs587784273
1000 genomesrs587784273
hgdprs587784273
ensemblrs587784273
geneviewrs587784273
scholarrs587784273
googlers587784273
pharmgkbrs587784273
gwascentralrs587784273
openSNPrs587784273
23andMers587784273
SNPshotrs587784273
SNPdbers587784273
MSV3drs587784273
GWAS Ctlgrs587784273
Max Magnitude0
ClinVar
Risk rs587784273(G;G)
Alt rs587784273(G;G)
Reference Rs587784273(C;C)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2576012C>G
CLNSRC
CLNACC RCV000147046.1,