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rs121434352

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434352(C;T)
Make rs121434352(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position75840317
GeneUNC13D
is asnp
is mentioned by
dbSNPrs121434352
ebirs121434352
HLIrs121434352
Exacrs121434352
Varsomers121434352
Maprs121434352
PheGenIrs121434352
hapmaprs121434352
1000 genomesrs121434352
hgdprs121434352
ensemblrs121434352
gopubmedrs121434352
geneviewrs121434352
scholarrs121434352
googlers121434352
pharmgkbrs121434352
gwascentralrs121434352
openSNPrs121434352
23andMers121434352
23andMe allrs121434352
SNP Nexus

SNPshotrs121434352
SNPdbers121434352
MSV3drs121434352
GWAS Ctlgrs121434352
GMAF0.0004591
Max Magnitude0
OMIM608897
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434352(G,T;G,T)
Alt rs121434352(G,T;G,T)
Reference rs121434352(C;C)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene UNC13D
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 3
Reversed 1
HGVS NC_000017.10:g.73836398G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002077.3,