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rs766657895

From SNPedia

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


Make rs766657895(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position75830592
GeneUNC13D
is asnp
is mentioned by
dbSNPrs766657895
dbSNP (classic)rs766657895
ClinGenrs766657895
ebirs766657895
HLIrs766657895
Exacrs766657895
Gnomadrs766657895
Varsomers766657895
LitVarrs766657895
Maprs766657895
PheGenIrs766657895
Biobankrs766657895
1000 genomesrs766657895
hgdprs766657895
ensemblrs766657895
geneviewrs766657895
scholarrs766657895
googlers766657895
pharmgkbrs766657895
gwascentralrs766657895
openSNPrs766657895
23andMers766657895
23andMe allrs766657895
SNPshotrs766657895
SNPdbers766657895
MSV3drs766657895
GWAS Ctlgrs766657895
Max Magnitude3

aka c.2695C>T (p.Arg899Ter)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

ClinVar
Risk rs766657895(A;A)
Alt rs766657895(A;A)
Reference Rs766657895(G;G)
Significance Probable-Pathogenic
Disease Familial hemophagocytic lymphohistiocytosis
Variation info
Gene UNC13D
CLNDBN Familial hemophagocytic lymphohistiocytosis
Reversed 0
HGVS NC_000017.10:g.73826673G>A
CLNSRC Illumina
CLNACC RCV000323586.1,