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rs587784248

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784248(C;C)
Make rs587784248(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2681765
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784248
ebirs587784248
HLIrs587784248
Exacrs587784248
Varsomers587784248
Maprs587784248
PheGenIrs587784248
hapmaprs587784248
1000 genomesrs587784248
hgdprs587784248
ensemblrs587784248
gopubmedrs587784248
geneviewrs587784248
scholarrs587784248
googlers587784248
pharmgkbrs587784248
gwascentralrs587784248
openSNPrs587784248
23andMers587784248
23andMe allrs587784248
SNP Nexus

SNPshotrs587784248
SNPdbers587784248
MSV3drs587784248
GWAS Ctlgrs587784248
Max Magnitude0
ClinVar
Risk rs587784248(C;C)
Alt rs587784248(C;C)
Reference rs587784248(G;G)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2585059G>C
CLNSRC
CLNACC RCV000147017.1,