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rs754621494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
(T;T) 0 common/normal
Make rs754621494(G;G)
Make rs754621494(G;T)
ReferenceGRCh38.p7 38.3/151
Chromosome17
Position75835410
GeneUNC13D
is asnp
is mentioned by
dbSNPrs754621494
dbSNP (classic)rs754621494
ClinGenrs754621494
ebirs754621494
HLIrs754621494
Exacrs754621494
Gnomadrs754621494
Varsomers754621494
LitVarrs754621494
Maprs754621494
PheGenIrs754621494
Biobankrs754621494
1000 genomesrs754621494
hgdprs754621494
ensemblrs754621494
geneviewrs754621494
scholarrs754621494
googlers754621494
pharmgkbrs754621494
gwascentralrs754621494
openSNPrs754621494
23andMers754621494
23andMe allrs754621494
SNPshotrs754621494
SNPdbers754621494
MSV3drs754621494
GWAS Ctlgrs754621494
Max Magnitude3

aka c.1847A>G (p.Glu616Gly)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar