rs121434352

Orientation

minus

Stabilized

minus

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

Make rs121434352(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

75840317

Gene

UNC13D

is a	snp
is	mentioned by
dbSNP	rs121434352
dbSNP (classic)	rs121434352
ClinGen	rs121434352
ebi	rs121434352
HLI	rs121434352
Exac	rs121434352
Gnomad	rs121434352
Varsome	rs121434352
LitVar	rs121434352
Map	rs121434352
PheGenI	rs121434352
Biobank	rs121434352
1000 genomes	rs121434352
hgdp	rs121434352
ensembl	rs121434352
geneview	rs121434352
scholar	rs121434352
google	rs121434352
pharmgkb	rs121434352
gwascentral	rs121434352
openSNP	rs121434352
23andMe	rs121434352
SNPshot	rs121434352
SNPdbe	rs121434352
MSV3d	rs121434352
GWAS Ctlg	rs121434352

GMAF

0.0004591

Max Magnitude

3

aka c.766C>T (p.Arg256Ter)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

23andMe name: i5006286

OMIM	608897
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121434352(G;G) rs121434352(T;T)
Alt	rs121434352(G;G) rs121434352(T;T)
Reference	Rs121434352(C;C)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	UNC13D
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 3
Reversed	1
HGVS	NC_000017.10:g.73836398G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002077.4,