rs794729649

Orientation

plus

Stabilized

plus

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

Make rs794729649(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

144187018

Gene

STX11

is a	snp
is	mentioned by
dbSNP	rs794729649
dbSNP (classic)	rs794729649
ClinGen	rs794729649
ebi	rs794729649
HLI	rs794729649
Exac	rs794729649
Gnomad	rs794729649
Varsome	rs794729649
LitVar	rs794729649
Map	rs794729649
PheGenI	rs794729649
Biobank	rs794729649
1000 genomes	rs794729649
hgdp	rs794729649
ensembl	rs794729649
geneview	rs794729649
scholar	rs794729649
google	rs794729649
pharmgkb	rs794729649
gwascentral	rs794729649
openSNP	rs794729649
23andMe	rs794729649
SNPshot	rs794729649
SNPdbe	rs794729649
MSV3d	rs794729649
GWAS Ctlg	rs794729649

Max Magnitude

3

aka c.391C>T (p.Gln131Ter)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

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,