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rs587784244

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784244(G;T)
Make rs587784244(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2680320
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784244
ebirs587784244
HLIrs587784244
Exacrs587784244
Varsomers587784244
Maprs587784244
PheGenIrs587784244
hapmaprs587784244
1000 genomesrs587784244
hgdprs587784244
ensemblrs587784244
gopubmedrs587784244
geneviewrs587784244
scholarrs587784244
googlers587784244
pharmgkbrs587784244
gwascentralrs587784244
openSNPrs587784244
23andMers587784244
23andMe allrs587784244
SNP Nexus

SNPshotrs587784244
SNPdbers587784244
MSV3drs587784244
GWAS Ctlgrs587784244
Max Magnitude0
ClinVar
Risk rs587784244(T;T)
Alt rs587784244(T;T)
Reference rs587784244(G;G)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2583614G>T
CLNSRC
CLNACC RCV000147013.1,