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rs587784253

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784253(-;-)
Make rs587784253(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2666050
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784253
ebirs587784253
HLIrs587784253
Exacrs587784253
Varsomers587784253
Maprs587784253
PheGenIrs587784253
hapmaprs587784253
1000 genomesrs587784253
hgdprs587784253
ensemblrs587784253
gopubmedrs587784253
geneviewrs587784253
scholarrs587784253
googlers587784253
pharmgkbrs587784253
gwascentralrs587784253
openSNPrs587784253
23andMers587784253
23andMe allrs587784253
SNP Nexus

SNPshotrs587784253
SNPdbers587784253
MSV3drs587784253
GWAS Ctlgrs587784253
Max Magnitude0
ClinVar
Risk rs587784253(;)
Alt rs587784253(;)
Reference rs587784253(T;T)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2569344delT
CLNSRC
CLNACC RCV000147022.1,