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rs121434490

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434490(A;C)
Make rs121434490(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position2674218
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs121434490
ebirs121434490
HLIrs121434490
Exacrs121434490
Varsomers121434490
Maprs121434490
PheGenIrs121434490
hapmaprs121434490
1000 genomesrs121434490
hgdprs121434490
ensemblrs121434490
gopubmedrs121434490
geneviewrs121434490
scholarrs121434490
googlers121434490
pharmgkbrs121434490
gwascentralrs121434490
openSNPrs121434490
23andMers121434490
23andMe allrs121434490
SNP Nexus

SNPshotrs121434490
SNPdbers121434490
MSV3drs121434490
GWAS Ctlgrs121434490
Max Magnitude0
OMIM601545
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121434490(C;C)
Alt rs121434490(C;C)
Reference rs121434490(A;A)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2577512A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008550.2,