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rs121434485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434485(C;C)
Make rs121434485(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position2676553
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs121434485
ebirs121434485
HLIrs121434485
Exacrs121434485
Varsomers121434485
Maprs121434485
PheGenIrs121434485
hapmaprs121434485
1000 genomesrs121434485
hgdprs121434485
ensemblrs121434485
gopubmedrs121434485
geneviewrs121434485
scholarrs121434485
googlers121434485
pharmgkbrs121434485
gwascentralrs121434485
openSNPrs121434485
23andMers121434485
23andMe allrs121434485
SNP Nexus

SNPshotrs121434485
SNPdbers121434485
MSV3drs121434485
GWAS Ctlgrs121434485
Max Magnitude0
OMIM601545
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434485(C;C)
Alt rs121434485(C;C)
Reference rs121434485(G;G)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2579847G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008544.3,