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rs113994199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs113994199(-;-)
Make rs113994199(-;A)
Make rs113994199(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position2666060
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs113994199
ebirs113994199
HLIrs113994199
Exacrs113994199
Varsomers113994199
Maprs113994199
PheGenIrs113994199
hapmaprs113994199
1000 genomesrs113994199
hgdprs113994199
ensemblrs113994199
gopubmedrs113994199
geneviewrs113994199
scholarrs113994199
googlers113994199
pharmgkbrs113994199
gwascentralrs113994199
openSNPrs113994199
23andMers113994199
23andMe allrs113994199
SNP Nexus

SNPshotrs113994199
SNPdbers113994199
MSV3drs113994199
GWAS Ctlgrs113994199
Max Magnitude0
ClinVar
Risk rs113994199(A;A)
Alt rs113994199(A;A)
Reference rs113994199(;)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2569354dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020303.2,