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rs587784280

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784280(A;A)
Make rs587784280(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2672762
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784280
ebirs587784280
HLIrs587784280
Exacrs587784280
Varsomers587784280
Maprs587784280
PheGenIrs587784280
hapmaprs587784280
1000 genomesrs587784280
hgdprs587784280
ensemblrs587784280
gopubmedrs587784280
geneviewrs587784280
scholarrs587784280
googlers587784280
pharmgkbrs587784280
gwascentralrs587784280
openSNPrs587784280
23andMers587784280
23andMe allrs587784280
SNP Nexus

SNPshotrs587784280
SNPdbers587784280
MSV3drs587784280
GWAS Ctlgrs587784280
Max Magnitude0
ClinVar
Risk rs587784280(A;A)
Alt rs587784280(A;A)
Reference rs587784280(G;G)
Significance Probable-Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2576056G>A
CLNSRC
CLNACC RCV000147053.1,