Have questions? Visit https://www.reddit.com/r/SNPedia

rs587784241

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784241(C;T)
Make rs587784241(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2680272
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784241
ebirs587784241
HLIrs587784241
Exacrs587784241
Varsomers587784241
Maprs587784241
PheGenIrs587784241
hapmaprs587784241
1000 genomesrs587784241
hgdprs587784241
ensemblrs587784241
gopubmedrs587784241
geneviewrs587784241
scholarrs587784241
googlers587784241
pharmgkbrs587784241
gwascentralrs587784241
openSNPrs587784241
23andMers587784241
23andMe allrs587784241
SNP Nexus

SNPshotrs587784241
SNPdbers587784241
MSV3drs587784241
GWAS Ctlgrs587784241
Max Magnitude0
ClinVar
Risk rs587784241(T;T)
Alt rs587784241(T;T)
Reference rs587784241(C;C)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2583566C>T
CLNSRC
CLNACC RCV000147010.1,