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rs754882266

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
Make rs754882266(T;T)
ReferenceGRCh38.p7 38.3/151
Chromosome17
Position75835646
GeneUNC13D
is asnp
is mentioned by
dbSNPrs754882266
dbSNP (classic)rs754882266
ClinGenrs754882266
ebirs754882266
HLIrs754882266
Exacrs754882266
Gnomadrs754882266
Varsomers754882266
LitVarrs754882266
Maprs754882266
PheGenIrs754882266
Biobankrs754882266
1000 genomesrs754882266
hgdprs754882266
ensemblrs754882266
geneviewrs754882266
scholarrs754882266
googlers754882266
pharmgkbrs754882266
gwascentralrs754882266
openSNPrs754882266
23andMers754882266
23andMe allrs754882266
SNPshotrs754882266
SNPdbers754882266
MSV3drs754882266
GWAS Ctlgrs754882266
Max Magnitude3

aka c.1727+1G>A

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar