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rs587784278

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784278(C;T)
Make rs587784278(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2672750
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784278
ebirs587784278
HLIrs587784278
Exacrs587784278
Varsomers587784278
Maprs587784278
PheGenIrs587784278
hapmaprs587784278
1000 genomesrs587784278
hgdprs587784278
ensemblrs587784278
gopubmedrs587784278
geneviewrs587784278
scholarrs587784278
googlers587784278
pharmgkbrs587784278
gwascentralrs587784278
openSNPrs587784278
23andMers587784278
23andMe allrs587784278
SNP Nexus

SNPshotrs587784278
SNPdbers587784278
MSV3drs587784278
GWAS Ctlgrs587784278
Max Magnitude0
ClinVar
Risk rs587784278(T;T)
Alt rs587784278(T;T)
Reference rs587784278(C;C)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2576044C>T
CLNSRC
CLNACC RCV000147051.1,