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rs431905512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs431905512(C;C)
Make rs431905512(C;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position144186800
GeneSTX11
is asnp
is mentioned by
dbSNPrs431905512
ebirs431905512
HLIrs431905512
Exacrs431905512
Varsomers431905512
Maprs431905512
PheGenIrs431905512
hapmaprs431905512
1000 genomesrs431905512
hgdprs431905512
ensemblrs431905512
gopubmedrs431905512
geneviewrs431905512
scholarrs431905512
googlers431905512
pharmgkbrs431905512
gwascentralrs431905512
openSNPrs431905512
23andMers431905512
23andMe allrs431905512
SNP Nexus

SNPshotrs431905512
SNPdbers431905512
MSV3drs431905512
GWAS Ctlgrs431905512
Max Magnitude0
ClinVar
Risk rs431905512(C;C)
Alt rs431905512(C;C)
Reference rs431905512(T;T)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene STX11
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 4
Reversed 0
HGVS NC_000006.11:g.144507937T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000083252.2,