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rs113994201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs113994201(-;G)
Make rs113994201(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position2680211
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs113994201
dbSNP (classic)rs113994201
ClinGenrs113994201
ebirs113994201
HLIrs113994201
Exacrs113994201
Gnomadrs113994201
Varsomers113994201
LitVarrs113994201
Maprs113994201
PheGenIrs113994201
Biobankrs113994201
1000 genomesrs113994201
hgdprs113994201
ensemblrs113994201
geneviewrs113994201
scholarrs113994201
googlers113994201
pharmgkbrs113994201
gwascentralrs113994201
openSNPrs113994201
23andMers113994201
SNPshotrs113994201
SNPdbers113994201
MSV3drs113994201
GWAS Ctlgrs113994201
Merged fromRs797045856
Max Magnitude0
ClinVar
Risk rs113994201(G;G)
Alt rs113994201(G;G)
Reference Rs113994201(-;-)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2583505dupG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020299.3,