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rs587784267

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784267(C;T)
Make rs587784267(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2670193
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784267
dbSNP (classic)rs587784267
ClinGenrs587784267
ebirs587784267
HLIrs587784267
Exacrs587784267
Gnomadrs587784267
Varsomers587784267
LitVarrs587784267
Maprs587784267
PheGenIrs587784267
Biobankrs587784267
1000 genomesrs587784267
hgdprs587784267
ensemblrs587784267
geneviewrs587784267
scholarrs587784267
googlers587784267
pharmgkbrs587784267
gwascentralrs587784267
openSNPrs587784267
23andMers587784267
SNPshotrs587784267
SNPdbers587784267
MSV3drs587784267
GWAS Ctlgrs587784267
Max Magnitude0
ClinVar
Risk rs587784267(T;T)
Alt rs587784267(T;T)
Reference Rs587784267(C;C)
Significance Pathogenic
Disease Lissencephaly 1 not provided
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1 not provided
Reversed 0
HGVS NC_000017.10:g.2573487C>T
CLNSRC
CLNACC RCV000147038.1, RCV000255123.1,