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rs121434483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434483(C;T)
Make rs121434483(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position2674205
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs121434483
ebirs121434483
HLIrs121434483
Exacrs121434483
Varsomers121434483
Maprs121434483
PheGenIrs121434483
hapmaprs121434483
1000 genomesrs121434483
hgdprs121434483
ensemblrs121434483
gopubmedrs121434483
geneviewrs121434483
scholarrs121434483
googlers121434483
pharmgkbrs121434483
gwascentralrs121434483
openSNPrs121434483
23andMers121434483
23andMe allrs121434483
SNP Nexus

SNPshotrs121434483
SNPdbers121434483
MSV3drs121434483
GWAS Ctlgrs121434483
Max Magnitude0
OMIM601545
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434483(T;T)
Alt rs121434483(T;T)
Reference rs121434483(C;C)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2577499C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008541.3,