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rs587784293

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784293(C;T)
Make rs587784293(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2676542
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784293
ebirs587784293
HLIrs587784293
Exacrs587784293
Varsomers587784293
Maprs587784293
PheGenIrs587784293
hapmaprs587784293
1000 genomesrs587784293
hgdprs587784293
ensemblrs587784293
gopubmedrs587784293
geneviewrs587784293
scholarrs587784293
googlers587784293
pharmgkbrs587784293
gwascentralrs587784293
openSNPrs587784293
23andMers587784293
23andMe allrs587784293
SNP Nexus

SNPshotrs587784293
SNPdbers587784293
MSV3drs587784293
GWAS Ctlgrs587784293
Max Magnitude0
ClinVar
Risk rs587784293(T;T)
Alt rs587784293(T;T)
Reference rs587784293(C;C)
Significance Probable-Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2579836C>T
CLNSRC
CLNACC RCV000147069.1,