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rs587784269

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784269(C;T)
Make rs587784269(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2670223
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784269
ebirs587784269
HLIrs587784269
Exacrs587784269
Varsomers587784269
Maprs587784269
PheGenIrs587784269
hapmaprs587784269
1000 genomesrs587784269
hgdprs587784269
ensemblrs587784269
gopubmedrs587784269
geneviewrs587784269
scholarrs587784269
googlers587784269
pharmgkbrs587784269
gwascentralrs587784269
openSNPrs587784269
23andMers587784269
23andMe allrs587784269
SNP Nexus

SNPshotrs587784269
SNPdbers587784269
MSV3drs587784269
GWAS Ctlgrs587784269
Max Magnitude0
ClinVar
Risk rs587784269(T;T)
Alt rs587784269(T;T)
Reference rs587784269(C;C)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2573517C>T
CLNSRC
CLNACC RCV000147040.1,