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rs202020396

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
(G;G) 0 common/normal


Make rs202020396(A;A)
ReferenceGRCh38.p7 38.3/151
Chromosome17
Position75840100
GeneUNC13D
is asnp
is mentioned by
dbSNPrs202020396
dbSNP (classic)rs202020396
ClinGenrs202020396
ebirs202020396
HLIrs202020396
Exacrs202020396
Gnomadrs202020396
Varsomers202020396
LitVarrs202020396
Maprs202020396
PheGenIrs202020396
Biobankrs202020396
1000 genomesrs202020396
hgdprs202020396
ensemblrs202020396
geneviewrs202020396
scholarrs202020396
googlers202020396
pharmgkbrs202020396
gwascentralrs202020396
openSNPrs202020396
23andMers202020396
23andMe allrs202020396
SNPshotrs202020396
SNPdbers202020396
MSV3drs202020396
GWAS Ctlgrs202020396
Max Magnitude3

aka c.869C>A (p.Ser290Ter)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar