rs431905512

Orientation

plus

Stabilized

plus

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

Make rs431905512(C;C)

Reference

GRCh38 38.1/142

Chromosome

6

Position

144186800

Gene

STX11

is a	snp
is	mentioned by
dbSNP	rs431905512
dbSNP (classic)	rs431905512
ClinGen	rs431905512
ebi	rs431905512
HLI	rs431905512
Exac	rs431905512
Gnomad	rs431905512
Varsome	rs431905512
LitVar	rs431905512
Map	rs431905512
PheGenI	rs431905512
Biobank	rs431905512
1000 genomes	rs431905512
hgdp	rs431905512
ensembl	rs431905512
geneview	rs431905512
scholar	rs431905512
google	rs431905512
pharmgkb	rs431905512
gwascentral	rs431905512
openSNP	rs431905512
23andMe	rs431905512
SNPshot	rs431905512
SNPdbe	rs431905512
MSV3d	rs431905512
GWAS Ctlg	rs431905512

Max Magnitude

3

aka c.173T>C (p.Leu58Pro)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

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,