rs796065025

Orientation

minus

Stabilized

minus

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

Make rs796065025(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

75843204

Gene

UNC13D

is a	snp
is	mentioned by
dbSNP	rs796065025
dbSNP (classic)	rs796065025
ClinGen	rs796065025
ebi	rs796065025
HLI	rs796065025
Exac	rs796065025
Gnomad	rs796065025
Varsome	rs796065025
LitVar	rs796065025
Map	rs796065025
PheGenI	rs796065025
Biobank	rs796065025
1000 genomes	rs796065025
hgdp	rs796065025
ensembl	rs796065025
geneview	rs796065025
scholar	rs796065025
google	rs796065025
pharmgkb	rs796065025
gwascentral	rs796065025
openSNP	rs796065025
23andMe	rs796065025
SNPshot	rs796065025
SNPdbe	rs796065025
MSV3d	rs796065025
GWAS Ctlg	rs796065025

Max Magnitude

3

aka c.216delC (p.Asn73Thrfs)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

ClinVar
Risk	rs796065025(-;-)
Alt	rs796065025(-;-)
Reference	Rs796065025(C;C)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	UNC13D
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 3
Reversed	1
HGVS	NC_000017.10:g.73839285delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002074.4,