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rs764196809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CTCC) 3 Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
(CTCC;CTCC) 0 common in clinvar
(I;I) 0 common genotype


Make rs764196809(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position75834093
GeneUNC13D
is asnp
is mentioned by
dbSNPrs764196809
dbSNP (classic)rs764196809
ClinGenrs764196809
ebirs764196809
HLIrs764196809
Exacrs764196809
Gnomadrs764196809
Varsomers764196809
LitVarrs764196809
Maprs764196809
PheGenIrs764196809
Biobankrs764196809
1000 genomesrs764196809
hgdprs764196809
ensemblrs764196809
geneviewrs764196809
scholarrs764196809
googlers764196809
pharmgkbrs764196809
gwascentralrs764196809
openSNPrs764196809
23andMers764196809
23andMe allrs764196809
SNPshotrs764196809
SNPdbers764196809
MSV3drs764196809
GWAS Ctlgrs764196809
Max Magnitude3

aka c.2346_2349delGGAG (p.Arg782Serfs)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

ClinVar
Risk rs764196809(-;-)
Alt rs764196809(-;-)
Reference Rs764196809(CTCC;CTCC)
Significance Pathogenic
Disease not provided
Variation info
Gene UNC13D
CLNDBN not provided
Reversed 0
HGVS NC_000017.10:g.73830174_73830177delCTCC
CLNSRC
CLNACC RCV000483118.1,