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rs121434487

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434487(A;A)
Make rs121434487(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position2670247
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs121434487
dbSNP (old)rs121434487
ClinGenrs121434487
ebirs121434487
HLIrs121434487
Exacrs121434487
Gnomadrs121434487
Varsomers121434487
Maprs121434487
PheGenIrs121434487
Biobankrs121434487
1000 genomesrs121434487
hgdprs121434487
ensemblrs121434487
gopubmedrs121434487
geneviewrs121434487
scholarrs121434487
googlers121434487
pharmgkbrs121434487
gwascentralrs121434487
openSNPrs121434487
23andMers121434487
23andMe allrs121434487
SNP Nexus

SNPshotrs121434487
SNPdbers121434487
MSV3drs121434487
GWAS Ctlgrs121434487
Max Magnitude0
OMIM601545
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121434487(A;A)
Alt rs121434487(A;A)
Reference Rs121434487(G;G)
Significance Other
Disease Lissencephaly 1
Variation info
Gene PAFAH1B1
CLNDBN Lissencephaly 1
Reversed 0
HGVS NC_000017.10:g.2573541G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008546.3,