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rs121434354

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 3 Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
(T;T) 0 common in clinvar


Make rs121434354(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position75831153
GeneUNC13D
is asnp
is mentioned by
dbSNPrs121434354
dbSNP (classic)rs121434354
ClinGenrs121434354
ebirs121434354
HLIrs121434354
Exacrs121434354
Gnomadrs121434354
Varsomers121434354
LitVarrs121434354
Maprs121434354
PheGenIrs121434354
Biobankrs121434354
1000 genomesrs121434354
hgdprs121434354
ensemblrs121434354
geneviewrs121434354
scholarrs121434354
googlers121434354
pharmgkbrs121434354
gwascentralrs121434354
openSNPrs121434354
23andMers121434354
SNPshotrs121434354
SNPdbers121434354
MSV3drs121434354
GWAS Ctlgrs121434354
Max Magnitude3

aka c.2570T>G (p.Phe857Cys)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

23andMe name: i5006288

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 RCV000002080.5,