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rs104893996

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893996(C;T)
Make rs104893996(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position144187429
GeneSTX11
is asnp
is mentioned by
dbSNPrs104893996
ebirs104893996
HLIrs104893996
Exacrs104893996
Varsomers104893996
Maprs104893996
PheGenIrs104893996
hapmaprs104893996
1000 genomesrs104893996
hgdprs104893996
ensemblrs104893996
gopubmedrs104893996
geneviewrs104893996
scholarrs104893996
googlers104893996
pharmgkbrs104893996
gwascentralrs104893996
openSNPrs104893996
23andMers104893996
23andMe allrs104893996
SNP Nexus

SNPshotrs104893996
SNPdbers104893996
MSV3drs104893996
GWAS Ctlgrs104893996
Max Magnitude0
OMIM605014
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893996(T;T)
Alt rs104893996(T;T)
Reference rs104893996(C;C)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene STX11
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 4
Reversed 0
HGVS NC_000006.11:g.144508566C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005581.2,