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rs121434489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434489(C;T)
Make rs121434489(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position2638310
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs121434489
ebirs121434489
HLIrs121434489
Exacrs121434489
Varsomers121434489
Maprs121434489
PheGenIrs121434489
hapmaprs121434489
1000 genomesrs121434489
hgdprs121434489
ensemblrs121434489
gopubmedrs121434489
geneviewrs121434489
scholarrs121434489
googlers121434489
pharmgkbrs121434489
gwascentralrs121434489
openSNPrs121434489
23andMers121434489
23andMe allrs121434489
SNP Nexus

SNPshotrs121434489
SNPdbers121434489
MSV3drs121434489
GWAS Ctlgrs121434489
Max Magnitude0
OMIM601545
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121434489(T;T)
Alt rs121434489(T;T)
Reference rs121434489(C;C)
Significance Pathogenic
Disease Subcortical band heterotopia Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Subcortical band heterotopia Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2541604C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008548.2, RCV000008549.4,