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rs587784251

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784251(A;C)
Make rs587784251(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2681802
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784251
ebirs587784251
HLIrs587784251
Exacrs587784251
Varsomers587784251
Maprs587784251
PheGenIrs587784251
hapmaprs587784251
1000 genomesrs587784251
hgdprs587784251
ensemblrs587784251
gopubmedrs587784251
geneviewrs587784251
scholarrs587784251
googlers587784251
pharmgkbrs587784251
gwascentralrs587784251
openSNPrs587784251
23andMers587784251
23andMe allrs587784251
SNP Nexus

SNPshotrs587784251
SNPdbers587784251
MSV3drs587784251
GWAS Ctlgrs587784251
Max Magnitude0
ClinVar
Risk rs587784251(C;C)
Alt rs587784251(C;C)
Reference rs587784251(A;A)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2585096A>C
CLNSRC
CLNACC RCV000147020.1,