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rs587784285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784285(G;G)
Make rs587784285(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2665411
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784285
dbSNP (classic)rs587784285
ClinGenrs587784285
ebirs587784285
HLIrs587784285
Exacrs587784285
Gnomadrs587784285
Varsomers587784285
LitVarrs587784285
Maprs587784285
PheGenIrs587784285
Biobankrs587784285
1000 genomesrs587784285
hgdprs587784285
ensemblrs587784285
geneviewrs587784285
scholarrs587784285
googlers587784285
pharmgkbrs587784285
gwascentralrs587784285
openSNPrs587784285
23andMers587784285
SNPshotrs587784285
SNPdbers587784285
MSV3drs587784285
GWAS Ctlgrs587784285
Max Magnitude0
ClinVar
Risk rs587784285(G;G)
Alt rs587784285(G;G)
Reference Rs587784285(T;T)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2568705T>G
CLNSRC
CLNACC RCV000147059.1,