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rs121434488

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434488(C;C)
Make rs121434488(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position2674110
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs121434488
ebirs121434488
HLIrs121434488
Exacrs121434488
Varsomers121434488
Maprs121434488
PheGenIrs121434488
hapmaprs121434488
1000 genomesrs121434488
hgdprs121434488
ensemblrs121434488
gopubmedrs121434488
geneviewrs121434488
scholarrs121434488
googlers121434488
pharmgkbrs121434488
gwascentralrs121434488
openSNPrs121434488
23andMers121434488
23andMe allrs121434488
SNP Nexus

SNPshotrs121434488
SNPdbers121434488
MSV3drs121434488
GWAS Ctlgrs121434488
Max Magnitude0
OMIM601545
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121434488(A,C;A,C)
Alt rs121434488(A,C;A,C)
Reference rs121434488(G;G)
Significance Pathogenic
Disease Subcortical band heterotopia
Variation info
Gene PAFAH1B1
CLNDBN Subcortical band heterotopia
Reversed 0
HGVS NC_000017.10:g.2577404G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008547.2,