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rs587784245

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784245(C;T)
Make rs587784245(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2681734
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784245
ebirs587784245
HLIrs587784245
Exacrs587784245
Varsomers587784245
Maprs587784245
PheGenIrs587784245
hapmaprs587784245
1000 genomesrs587784245
hgdprs587784245
ensemblrs587784245
gopubmedrs587784245
geneviewrs587784245
scholarrs587784245
googlers587784245
pharmgkbrs587784245
gwascentralrs587784245
openSNPrs587784245
23andMers587784245
23andMe allrs587784245
SNP Nexus

SNPshotrs587784245
SNPdbers587784245
MSV3drs587784245
GWAS Ctlgrs587784245
Max Magnitude0
ClinVar
Risk rs587784245(T;T)
Alt rs587784245(T;T)
Reference rs587784245(C;C)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2585028C>T
CLNSRC
CLNACC RCV000147014.1,