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rs587784274

From SNPedia

Orientationplus
Geno Mag Summary
(ATAAAACT;ATAAAACT) 0 common in clinvar
Make rs587784274(-;-)
Make rs587784274(-;CTATAAAA)
Make rs587784274(CTATAAAA;CTATAAAA)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2672730
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs587784274
ebirs587784274
HLIrs587784274
Exacrs587784274
Varsomers587784274
Maprs587784274
PheGenIrs587784274
hapmaprs587784274
1000 genomesrs587784274
hgdprs587784274
ensemblrs587784274
gopubmedrs587784274
geneviewrs587784274
scholarrs587784274
googlers587784274
pharmgkbrs587784274
gwascentralrs587784274
openSNPrs587784274
23andMers587784274
23andMe allrs587784274
SNP Nexus

SNPshotrs587784274
SNPdbers587784274
MSV3drs587784274
GWAS Ctlgrs587784274
Max Magnitude0
ClinVar
Risk rs587784274(;)
Alt rs587784274(;)
Reference rs587784274(ATAAAACT;ATAAAACT)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2576024_2576031delCTATAAAA
CLNSRC
CLNACC RCV000147047.1,