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rs587784260

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784260(C;T)
Make rs587784260(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2665369
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784260
ebirs587784260
HLIrs587784260
Exacrs587784260
Varsomers587784260
Maprs587784260
PheGenIrs587784260
hapmaprs587784260
1000 genomesrs587784260
hgdprs587784260
ensemblrs587784260
gopubmedrs587784260
geneviewrs587784260
scholarrs587784260
googlers587784260
pharmgkbrs587784260
gwascentralrs587784260
openSNPrs587784260
23andMers587784260
23andMe allrs587784260
SNP Nexus

SNPshotrs587784260
SNPdbers587784260
MSV3drs587784260
GWAS Ctlgrs587784260
Max Magnitude0
ClinVar
Risk rs587784260(T;T)
Alt rs587784260(T;T)
Reference rs587784260(C;C)
Significance Pathogenic
Disease not specified Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN not specified Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2568663C>G; NC_000017.10:g.2568663C>T
CLNSRC
CLNACC RCV000194419.1, RCV000147030.1,