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rs121434354

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434354(G;G)
Make rs121434354(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75831153
GeneUNC13D
is asnp
is mentioned by
dbSNPrs121434354
ebirs121434354
HLIrs121434354
Exacrs121434354
Varsomers121434354
Maprs121434354
PheGenIrs121434354
hapmaprs121434354
1000 genomesrs121434354
hgdprs121434354
ensemblrs121434354
gopubmedrs121434354
geneviewrs121434354
scholarrs121434354
googlers121434354
pharmgkbrs121434354
gwascentralrs121434354
openSNPrs121434354
23andMers121434354
23andMe allrs121434354
SNP Nexus

SNPshotrs121434354
SNPdbers121434354
MSV3drs121434354
GWAS Ctlgrs121434354
Max Magnitude0
OMIM608897
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121434354(G;G)
Alt rs121434354(G;G)
Reference rs121434354(T;T)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene UNC13D
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 3
Reversed 1
HGVS NC_000017.10:g.73827234A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002080.4,