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rs121434482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434482(A;G)
Make rs121434482(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position2670209
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs121434482
ebirs121434482
HLIrs121434482
Exacrs121434482
Varsomers121434482
Maprs121434482
PheGenIrs121434482
hapmaprs121434482
1000 genomesrs121434482
hgdprs121434482
ensemblrs121434482
gopubmedrs121434482
geneviewrs121434482
scholarrs121434482
googlers121434482
pharmgkbrs121434482
gwascentralrs121434482
openSNPrs121434482
23andMers121434482
23andMe allrs121434482
SNP Nexus

SNPshotrs121434482
SNPdbers121434482
MSV3drs121434482
GWAS Ctlgrs121434482
Max Magnitude0
OMIM601545
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434482(G;G)
Alt rs121434482(G;G)
Reference rs121434482(A;A)
Significance Pathogenic
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2573503A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008540.2,