rs483352901

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGTGGCGC;AGTGGCGC)	0	common in clinvar
(AGTGGCGC;TGG)	3	Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation

Make rs483352901(TGG;TGG)

Reference

GRCh38 38.1/142

Chromosome

6

Position

144186996

Gene

STX11

is a	snp
is	mentioned by
dbSNP	rs483352901
dbSNP (classic)	rs483352901
ClinGen	rs483352901
ebi	rs483352901
HLI	rs483352901
Exac	rs483352901
Gnomad	rs483352901
Varsome	rs483352901
LitVar	rs483352901
Map	rs483352901
PheGenI	rs483352901
Biobank	rs483352901
1000 genomes	rs483352901
hgdp	rs483352901
ensembl	rs483352901
geneview	rs483352901
scholar	rs483352901
google	rs483352901
pharmgkb	rs483352901
gwascentral	rs483352901
openSNP	rs483352901
23andMe	rs483352901
SNPshot	rs483352901
SNPdbe	rs483352901
MSV3d	rs483352901
GWAS Ctlg	rs483352901

Max Magnitude

3

aka c.369_376delAGTGGCGCinsTGG (p.Val124Glyfs)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

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,