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rs587784249

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784249(C;C)
Make rs587784249(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2681770
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784249
ebirs587784249
HLIrs587784249
Exacrs587784249
Varsomers587784249
Maprs587784249
PheGenIrs587784249
hapmaprs587784249
1000 genomesrs587784249
hgdprs587784249
ensemblrs587784249
gopubmedrs587784249
geneviewrs587784249
scholarrs587784249
googlers587784249
pharmgkbrs587784249
gwascentralrs587784249
openSNPrs587784249
23andMers587784249
23andMe allrs587784249
SNP Nexus

SNPshotrs587784249
SNPdbers587784249
MSV3drs587784249
GWAS Ctlgrs587784249
Max Magnitude0
ClinVar
Risk rs587784249(C;C)
Alt rs587784249(C;C)
Reference rs587784249(G;G)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2585064G>C
CLNSRC
CLNACC RCV000147018.1,