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rs796065026

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 3 Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
(D;D) 0 common genotype
Make rs796065026(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position75835502
GeneUNC13D
is asnp
is mentioned by
dbSNPrs796065026
dbSNP (classic)rs796065026
ClinGenrs796065026
ebirs796065026
HLIrs796065026
Exacrs796065026
Gnomadrs796065026
Varsomers796065026
LitVarrs796065026
Maprs796065026
PheGenIrs796065026
Biobankrs796065026
1000 genomesrs796065026
hgdprs796065026
ensemblrs796065026
geneviewrs796065026
scholarrs796065026
googlers796065026
pharmgkbrs796065026
gwascentralrs796065026
openSNPrs796065026
23andMers796065026
23andMe allrs796065026
SNPshotrs796065026
SNPdbers796065026
MSV3drs796065026
GWAS Ctlgrs796065026
Max Magnitude3

aka c.1754dupT (p.His586Profs)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

ClinVar
Risk rs796065026(T;T)
Alt rs796065026(T;T)
Reference Rs796065026(-;-)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene UNC13D
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 3
Reversed 1
HGVS NC_000017.10:g.73831584dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000002075.4,