rs796065026

Orientation

minus

Stabilized

minus

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

Make rs796065026(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

75835502

Gene

UNC13D

is a	snp
is	mentioned by
dbSNP	rs796065026
dbSNP (classic)	rs796065026
ClinGen	rs796065026
ebi	rs796065026
HLI	rs796065026
Exac	rs796065026
Gnomad	rs796065026
Varsome	rs796065026
LitVar	rs796065026
Map	rs796065026
PheGenI	rs796065026
Biobank	rs796065026
1000 genomes	rs796065026
hgdp	rs796065026
ensembl	rs796065026
geneview	rs796065026
scholar	rs796065026
google	rs796065026
pharmgkb	rs796065026
gwascentral	rs796065026
openSNP	rs796065026
23andMe	rs796065026
SNPshot	rs796065026
SNPdbe	rs796065026
MSV3d	rs796065026
GWAS Ctlg	rs796065026

Max Magnitude

3

aka c.1754dupT (p.His586Profs)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

ClinVar
Risk	rs796065026(T;T)
Alt	rs796065026(T;T)
Reference	Rs796065026(-;-)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	UNC13D
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 3
Reversed	1
HGVS	NC_000017.10:g.73831584dupA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002075.4,