rs121918540

Orientation

plus

Stabilized

plus

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

Make rs121918540(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

7646322

Gene

STXBP2

is a	snp
is	mentioned by
dbSNP	rs121918540
dbSNP (classic)	rs121918540
ClinGen	rs121918540
ebi	rs121918540
HLI	rs121918540
Exac	rs121918540
Gnomad	rs121918540
Varsome	rs121918540
LitVar	rs121918540
Map	rs121918540
PheGenI	rs121918540
Biobank	rs121918540
1000 genomes	rs121918540
hgdp	rs121918540
ensembl	rs121918540
geneview	rs121918540
scholar	rs121918540
google	rs121918540
pharmgkb	rs121918540
gwascentral	rs121918540
openSNP	rs121918540
23andMe	rs121918540
SNPshot	rs121918540
SNPdbe	rs121918540
MSV3d	rs121918540
GWAS Ctlg	rs121918540

Max Magnitude

3

aka c.1430C>T (p.Pro477Leu)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

OMIM	601717
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918540(T;T)
Alt	rs121918540(T;T)
Reference	Rs121918540(C;C)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	STXBP2
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 5
Reversed	0
HGVS	NC_000019.9:g.7711208C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008308.2,