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rs113994200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994200(-;-)
Make rs113994200(-;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position2680211
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs113994200
ebirs113994200
HLIrs113994200
Exacrs113994200
Varsomers113994200
Maprs113994200
PheGenIrs113994200
hapmaprs113994200
1000 genomesrs113994200
hgdprs113994200
ensemblrs113994200
gopubmedrs113994200
geneviewrs113994200
scholarrs113994200
googlers113994200
pharmgkbrs113994200
gwascentralrs113994200
openSNPrs113994200
23andMers113994200
23andMe allrs113994200
SNP Nexus

SNPshotrs113994200
SNPdbers113994200
MSV3drs113994200
GWAS Ctlgrs113994200
Max Magnitude0
ClinVar
Risk rs113994200(;)
Alt rs113994200(;)
Reference rs113994200(G;G)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2583505delG
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020298.2,


OMIM607432
Desc
Variant
Relatedalso