rs121918541

Orientation

plus

Stabilized

plus

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

Make rs121918541(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

7642081

Gene

STXBP2

is a	snp
is	mentioned by
dbSNP	rs121918541
dbSNP (classic)	rs121918541
ClinGen	rs121918541
ebi	rs121918541
HLI	rs121918541
Exac	rs121918541
Gnomad	rs121918541
Varsome	rs121918541
LitVar	rs121918541
Map	rs121918541
PheGenI	rs121918541
Biobank	rs121918541
1000 genomes	rs121918541
hgdp	rs121918541
ensembl	rs121918541
geneview	rs121918541
scholar	rs121918541
google	rs121918541
pharmgkb	rs121918541
gwascentral	rs121918541
openSNP	rs121918541
23andMe	rs121918541
SNPshot	rs121918541
SNPdbe	rs121918541
MSV3d	rs121918541
GWAS Ctlg	rs121918541

Max Magnitude

3

aka c.626T>C (p.Leu209Pro)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

23andMe name: i5001588

OMIM	601717
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918541(A;A) rs121918541(C;C)
Alt	rs121918541(A;A) rs121918541(C;C)
Reference	Rs121918541(T;T)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	STXBP2
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 5
Reversed	0
HGVS	NC_000019.9:g.7706967T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008311.3,