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rs121918540

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
Make rs121918540(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7646322
GeneSTXBP2
is asnp
is mentioned by
dbSNPrs121918540
dbSNP (classic)rs121918540
ClinGenrs121918540
ebirs121918540
HLIrs121918540
Exacrs121918540
Gnomadrs121918540
Varsomers121918540
LitVarrs121918540
Maprs121918540
PheGenIrs121918540
Biobankrs121918540
1000 genomesrs121918540
hgdprs121918540
ensemblrs121918540
geneviewrs121918540
scholarrs121918540
googlers121918540
pharmgkbrs121918540
gwascentralrs121918540
openSNPrs121918540
23andMers121918540
23andMe allrs121918540
SNPshotrs121918540
SNPdbers121918540
MSV3drs121918540
GWAS Ctlgrs121918540
Max Magnitude3

aka c.1430C>T (p.Pro477Leu)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

OMIM601717
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918540(T;T)
Alt rs121918540(T;T)
Reference Rs121918540(C;C)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene STXBP2
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 5
Reversed 0
HGVS NC_000019.9:g.7711208C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008308.2,