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rs587784271

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784271(-;-)
Make rs587784271(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2670300
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784271
ebirs587784271
HLIrs587784271
Exacrs587784271
Varsomers587784271
Maprs587784271
PheGenIrs587784271
hapmaprs587784271
1000 genomesrs587784271
hgdprs587784271
ensemblrs587784271
gopubmedrs587784271
geneviewrs587784271
scholarrs587784271
googlers587784271
pharmgkbrs587784271
gwascentralrs587784271
openSNPrs587784271
23andMers587784271
23andMe allrs587784271
SNP Nexus

SNPshotrs587784271
SNPdbers587784271
MSV3drs587784271
GWAS Ctlgrs587784271
Max Magnitude0
ClinVar
Risk rs587784271(;)
Alt rs587784271(;)
Reference rs587784271(T;T)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2573594delT
CLNSRC
CLNACC RCV000147043.1,