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rs121434353

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434353(C;C)
Make rs121434353(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75836662
GeneUNC13D
is asnp
is mentioned by
dbSNPrs121434353
ebirs121434353
HLIrs121434353
Exacrs121434353
Varsomers121434353
Maprs121434353
PheGenIrs121434353
hapmaprs121434353
1000 genomesrs121434353
hgdprs121434353
ensemblrs121434353
gopubmedrs121434353
geneviewrs121434353
scholarrs121434353
googlers121434353
pharmgkbrs121434353
gwascentralrs121434353
openSNPrs121434353
23andMers121434353
23andMe allrs121434353
SNP Nexus

SNPshotrs121434353
SNPdbers121434353
MSV3drs121434353
GWAS Ctlgrs121434353
Max Magnitude0
OMIM608897
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121434353(C;C)
Alt rs121434353(C;C)
Reference rs121434353(T;T)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene UNC13D
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 3
Reversed 1
HGVS NC_000017.10:g.73832743A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002079.3,