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rs113994198

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994198(-;-)
Make rs113994198(-;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position2666060
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs113994198
ebirs113994198
HLIrs113994198
Exacrs113994198
Varsomers113994198
Maprs113994198
PheGenIrs113994198
hapmaprs113994198
1000 genomesrs113994198
hgdprs113994198
ensemblrs113994198
gopubmedrs113994198
geneviewrs113994198
scholarrs113994198
googlers113994198
pharmgkbrs113994198
gwascentralrs113994198
openSNPrs113994198
23andMers113994198
23andMe allrs113994198
SNP Nexus

SNPshotrs113994198
SNPdbers113994198
MSV3drs113994198
GWAS Ctlgrs113994198
Max Magnitude0
ClinVar
Risk rs113994198(;)
Alt rs113994198(;)
Reference rs113994198(A;A)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2569354delA
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020302.2,


OMIM607432
Desc
Variant
Relatedalso