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rs121434486

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434486(C;C)
Make rs121434486(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position2665431
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs121434486
ebirs121434486
HLIrs121434486
Exacrs121434486
Varsomers121434486
Maprs121434486
PheGenIrs121434486
hapmaprs121434486
1000 genomesrs121434486
hgdprs121434486
ensemblrs121434486
gopubmedrs121434486
geneviewrs121434486
scholarrs121434486
googlers121434486
pharmgkbrs121434486
gwascentralrs121434486
openSNPrs121434486
23andMers121434486
23andMe allrs121434486
SNP Nexus

SNPshotrs121434486
SNPdbers121434486
MSV3drs121434486
GWAS Ctlgrs121434486
Max Magnitude0
OMIM601545
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121434486(C;C)
Alt rs121434486(C;C)
Reference rs121434486(T;T)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2568725T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008545.2,