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rs747169857

From SNPedia

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


Make rs747169857(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position75840050
GeneUNC13D
is asnp
is mentioned by
dbSNPrs747169857
dbSNP (classic)rs747169857
ClinGenrs747169857
ebirs747169857
HLIrs747169857
Exacrs747169857
Gnomadrs747169857
Varsomers747169857
LitVarrs747169857
Maprs747169857
PheGenIrs747169857
Biobankrs747169857
1000 genomesrs747169857
hgdprs747169857
ensemblrs747169857
geneviewrs747169857
scholarrs747169857
googlers747169857
pharmgkbrs747169857
gwascentralrs747169857
openSNPrs747169857
23andMers747169857
23andMe allrs747169857
SNPshotrs747169857
SNPdbers747169857
MSV3drs747169857
GWAS Ctlgrs747169857
Max Magnitude3

aka c.919C>T (p.Gln307Ter)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

ClinVar
Risk rs747169857(A;A)
Alt rs747169857(A;A)
Reference Rs747169857(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene UNC13D
CLNDBN not provided
Reversed 0
HGVS NC_000017.10:g.73836131G>A
CLNSRC
CLNACC RCV000414378.1,