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rs483352901

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGTGGCGC;AGTGGCGC) 0 common in clinvar
Make rs483352901(AGTGGCGC;TGG)
Make rs483352901(TGG;TGG)
ReferenceGRCh38 38.1/142
Chromosome6
Position144186996
GeneSTX11
is asnp
is mentioned by
dbSNPrs483352901
ebirs483352901
HLIrs483352901
Exacrs483352901
Varsomers483352901
Maprs483352901
PheGenIrs483352901
hapmaprs483352901
1000 genomesrs483352901
hgdprs483352901
ensemblrs483352901
gopubmedrs483352901
geneviewrs483352901
scholarrs483352901
googlers483352901
pharmgkbrs483352901
gwascentralrs483352901
openSNPrs483352901
23andMers483352901
23andMe allrs483352901
SNP Nexus

SNPshotrs483352901
SNPdbers483352901
MSV3drs483352901
GWAS Ctlgrs483352901
Max Magnitude0
ClinVar
Risk rs483352901(TGG;TGG)
Alt rs483352901(TGG;TGG)
Reference rs483352901(AGTGGCGC;AGTGGCGC)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene STX11
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 4
Reversed 0
HGVS NC_000006.11:g.144508133_144508140delAGTGGCGCinsTGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005579.3,