rs140148806

Orientation

plus

Stabilized

plus

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

Make rs140148806(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

7645196

Gene

STXBP2

is a	snp
is	mentioned by
dbSNP	rs140148806
dbSNP (classic)	rs140148806
ClinGen	rs140148806
ebi	rs140148806
HLI	rs140148806
Exac	rs140148806
Gnomad	rs140148806
Varsome	rs140148806
LitVar	rs140148806
Map	rs140148806
PheGenI	rs140148806
Biobank	rs140148806
1000 genomes	rs140148806
hgdp	rs140148806
ensembl	rs140148806
geneview	rs140148806
scholar	rs140148806
google	rs140148806
pharmgkb	rs140148806
gwascentral	rs140148806
openSNP	rs140148806
23andMe	rs140148806
SNPshot	rs140148806
SNPdbe	rs140148806
MSV3d	rs140148806
GWAS Ctlg	rs140148806

Max Magnitude

3

aka c.1247-1G>C

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

23andMe name: i5001587

ClinVar
Risk	rs140148806(C;C)
Alt	rs140148806(C;C)
Reference	Rs140148806(G;G)
Significance	Pathogenic
Disease	Familial hemophagocytic lymphohistiocytosis
Variation	info
Gene	STXBP2
CLNDBN	Familial hemophagocytic lymphohistiocytosis
Reversed	0
HGVS	NC_000019.9:g.7710082G>C
CLNSRC	Illumina
CLNACC	RCV000351372.1,