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rs121918541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918541(C;C)
Make rs121918541(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7642081
GeneSTXBP2
is asnp
is mentioned by
dbSNPrs121918541
ebirs121918541
HLIrs121918541
Exacrs121918541
Varsomers121918541
Maprs121918541
PheGenIrs121918541
hapmaprs121918541
1000 genomesrs121918541
hgdprs121918541
ensemblrs121918541
gopubmedrs121918541
geneviewrs121918541
scholarrs121918541
googlers121918541
pharmgkbrs121918541
gwascentralrs121918541
openSNPrs121918541
23andMers121918541
23andMe allrs121918541
SNP Nexus

SNPshotrs121918541
SNPdbers121918541
MSV3drs121918541
GWAS Ctlgrs121918541
Max Magnitude0
OMIM601717
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918541(A,C;A,C)
Alt rs121918541(A,C;A,C)
Reference rs121918541(T;T)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene STXBP2
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 5
Reversed 0
HGVS NC_000019.9:g.7706967T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008311.3,