rs104893996

Orientation

plus

Stabilized

plus

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

Make rs104893996(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

144187429

Gene

STX11

is a	snp
is	mentioned by
dbSNP	rs104893996
dbSNP (classic)	rs104893996
ClinGen	rs104893996
ebi	rs104893996
HLI	rs104893996
Exac	rs104893996
Gnomad	rs104893996
Varsome	rs104893996
LitVar	rs104893996
Map	rs104893996
PheGenI	rs104893996
Biobank	rs104893996
1000 genomes	rs104893996
hgdp	rs104893996
ensembl	rs104893996
geneview	rs104893996
scholar	rs104893996
google	rs104893996
pharmgkb	rs104893996
gwascentral	rs104893996
openSNP	rs104893996
23andMe	rs104893996
SNPshot	rs104893996
SNPdbe	rs104893996
MSV3d	rs104893996
GWAS Ctlg	rs104893996

Max Magnitude

3

aka c.802C>T (p.Gln268Ter)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

OMIM	605014
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104893996(T;T)
Alt	rs104893996(T;T)
Reference	Rs104893996(C;C)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	STX11
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 4
Reversed	0
HGVS	NC_000006.11:g.144508566C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005581.2,