rs121434354

Orientation

minus

Stabilized

minus

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

Make rs121434354(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

75831153

Gene

UNC13D

is a	snp
is	mentioned by
dbSNP	rs121434354
dbSNP (classic)	rs121434354
ClinGen	rs121434354
ebi	rs121434354
HLI	rs121434354
Exac	rs121434354
Gnomad	rs121434354
Varsome	rs121434354
LitVar	rs121434354
Map	rs121434354
PheGenI	rs121434354
Biobank	rs121434354
1000 genomes	rs121434354
hgdp	rs121434354
ensembl	rs121434354
geneview	rs121434354
scholar	rs121434354
google	rs121434354
pharmgkb	rs121434354
gwascentral	rs121434354
openSNP	rs121434354
23andMe	rs121434354
SNPshot	rs121434354
SNPdbe	rs121434354
MSV3d	rs121434354
GWAS Ctlg	rs121434354

Max Magnitude

3

aka c.2570T>G (p.Phe857Cys)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

23andMe name: i5006288

OMIM	608897
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121434354(G;G)
Alt	rs121434354(G;G)
Reference	Rs121434354(T;T)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	UNC13D
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 3
Reversed	1
HGVS	NC_000017.10:g.73827234A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002080.5,