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rs587784268

From SNPedia

Orientationplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs587784268(-;-)
Make rs587784268(-;CT)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2670218
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784268
ebirs587784268
HLIrs587784268
Exacrs587784268
Varsomers587784268
Maprs587784268
PheGenIrs587784268
hapmaprs587784268
1000 genomesrs587784268
hgdprs587784268
ensemblrs587784268
gopubmedrs587784268
geneviewrs587784268
scholarrs587784268
googlers587784268
pharmgkbrs587784268
gwascentralrs587784268
openSNPrs587784268
23andMers587784268
23andMe allrs587784268
SNP Nexus

SNPshotrs587784268
SNPdbers587784268
MSV3drs587784268
GWAS Ctlgrs587784268
Max Magnitude0
ClinVar
Risk rs587784268(;)
Alt rs587784268(;)
Reference rs587784268(CT;CT)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2573512_2573513delCT
CLNSRC
CLNACC RCV000147039.1,