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rs777759523

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
Make rs777759523(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position75836338
GeneUNC13D
is asnp
is mentioned by
dbSNPrs777759523
dbSNP (classic)rs777759523
ClinGenrs777759523
ebirs777759523
HLIrs777759523
Exacrs777759523
Gnomadrs777759523
Varsomers777759523
LitVarrs777759523
Maprs777759523
PheGenIrs777759523
Biobankrs777759523
1000 genomesrs777759523
hgdprs777759523
ensemblrs777759523
geneviewrs777759523
scholarrs777759523
googlers777759523
pharmgkbrs777759523
gwascentralrs777759523
openSNPrs777759523
23andMers777759523
SNPshotrs777759523
SNPdbers777759523
MSV3drs777759523
GWAS Ctlgrs777759523
Max Magnitude3

aka c.1389+1G>A

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

ClinVar
Risk rs777759523(T;T)
Alt rs777759523(T;T)
Reference Rs777759523(C;C)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis not provided Familial hemophagocytic lymphohistiocytosis
Variation info
Gene UNC13D
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 3 not provided Familial hemophagocytic lymphohistiocytosis
Reversed 0
HGVS NC_000017.10:g.73832419C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002076.4, RCV000380656.1, RCV000404518.1,