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rs794729649

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794729649(C;T)
Make rs794729649(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position144187018
GeneSTX11
is asnp
is mentioned by
dbSNPrs794729649
ebirs794729649
HLIrs794729649
Exacrs794729649
Varsomers794729649
Maprs794729649
PheGenIrs794729649
hapmaprs794729649
1000 genomesrs794729649
hgdprs794729649
ensemblrs794729649
gopubmedrs794729649
geneviewrs794729649
scholarrs794729649
googlers794729649
pharmgkbrs794729649
gwascentralrs794729649
openSNPrs794729649
23andMers794729649
23andMe allrs794729649
SNP Nexus

SNPshotrs794729649
SNPdbers794729649
MSV3drs794729649
GWAS Ctlgrs794729649
Max Magnitude0
ClinVar
Risk rs794729649(T;T)
Alt rs794729649(T;T)
Reference rs794729649(C;C)
Significance Probable-Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene STX11
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 4
Reversed 0
HGVS NC_000006.11:g.144508155C>T
CLNSRC
CLNACC RCV000185559.2,