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rs587784282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784282(C;G)
Make rs587784282(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2674063
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784282
dbSNP (classic)rs587784282
ClinGenrs587784282
ebirs587784282
HLIrs587784282
Exacrs587784282
Gnomadrs587784282
Varsomers587784282
LitVarrs587784282
Maprs587784282
PheGenIrs587784282
Biobankrs587784282
1000 genomesrs587784282
hgdprs587784282
ensemblrs587784282
geneviewrs587784282
scholarrs587784282
googlers587784282
pharmgkbrs587784282
gwascentralrs587784282
openSNPrs587784282
23andMers587784282
SNPshotrs587784282
SNPdbers587784282
MSV3drs587784282
GWAS Ctlgrs587784282
Max Magnitude0
ClinVar
Risk rs587784282(G;G)
Alt rs587784282(G;G)
Reference Rs587784282(C;C)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2577357C>G
CLNSRC
CLNACC RCV000147055.1,