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rs587784281

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784281(A;A)
Make rs587784281(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2672757
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784281
dbSNP (classic)rs587784281
ClinGenrs587784281
ebirs587784281
HLIrs587784281
Exacrs587784281
Gnomadrs587784281
Varsomers587784281
LitVarrs587784281
Maprs587784281
PheGenIrs587784281
Biobankrs587784281
1000 genomesrs587784281
hgdprs587784281
ensemblrs587784281
geneviewrs587784281
scholarrs587784281
googlers587784281
pharmgkbrs587784281
gwascentralrs587784281
openSNPrs587784281
23andMers587784281
SNPshotrs587784281
SNPdbers587784281
MSV3drs587784281
GWAS Ctlgrs587784281
Max Magnitude0
ClinVar
Risk rs587784281(A;A)
Alt rs587784281(A;A)
Reference Rs587784281(G;G)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2576051G>A
CLNSRC
CLNACC RCV000147054.1,