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rs959968589

From SNPedia

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


Make rs959968589(A;A)
ReferenceGRCh38.p7 38.3/151
Chromosome17
Position75843827
GeneUNC13D
is asnp
is mentioned by
dbSNPrs959968589
dbSNP (classic)rs959968589
ClinGenrs959968589
ebirs959968589
HLIrs959968589
Exacrs959968589
Gnomadrs959968589
Varsomers959968589
LitVarrs959968589
Maprs959968589
PheGenIrs959968589
Biobankrs959968589
1000 genomesrs959968589
hgdprs959968589
ensemblrs959968589
geneviewrs959968589
scholarrs959968589
googlers959968589
pharmgkbrs959968589
gwascentralrs959968589
openSNPrs959968589
23andMers959968589
23andMe allrs959968589
SNPshotrs959968589
SNPdbers959968589
MSV3drs959968589
GWAS Ctlgrs959968589
Max Magnitude3

aka c.118-308C>T

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar