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rs121434484

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434484(C;C)
Make rs121434484(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position2670268
GenePAFAH1B1
is asnp
is mentioned by
dbSNPrs121434484
ebirs121434484
HLIrs121434484
Exacrs121434484
Varsomers121434484
Maprs121434484
PheGenIrs121434484
hapmaprs121434484
1000 genomesrs121434484
hgdprs121434484
ensemblrs121434484
gopubmedrs121434484
geneviewrs121434484
scholarrs121434484
googlers121434484
pharmgkbrs121434484
gwascentralrs121434484
openSNPrs121434484
23andMers121434484
23andMe allrs121434484
SNP Nexus

SNPshotrs121434484
SNPdbers121434484
MSV3drs121434484
GWAS Ctlgrs121434484
Max Magnitude0
OMIM601545
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434484(C;C)
Alt rs121434484(C;C)
Reference rs121434484(T;T)
Significance Pathogenic
Disease Subcortical band heterotopia
Variation info
Gene PAFAH1B1
CLNDBN Subcortical band heterotopia
Reversed 0
HGVS NC_000017.10:g.2573562T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008543.2,