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rs587784243

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784243(A;A)
Make rs587784243(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2680322
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784243
ebirs587784243
HLIrs587784243
Exacrs587784243
Varsomers587784243
Maprs587784243
PheGenIrs587784243
hapmaprs587784243
1000 genomesrs587784243
hgdprs587784243
ensemblrs587784243
gopubmedrs587784243
geneviewrs587784243
scholarrs587784243
googlers587784243
pharmgkbrs587784243
gwascentralrs587784243
openSNPrs587784243
23andMers587784243
23andMe allrs587784243
SNP Nexus

SNPshotrs587784243
SNPdbers587784243
MSV3drs587784243
GWAS Ctlgrs587784243
Max Magnitude0
ClinVar
Risk rs587784243(A;A)
Alt rs587784243(A;A)
Reference rs587784243(T;T)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2583616T>A
CLNSRC
CLNACC RCV000147012.1,