rs764196809

Orientation

plus

Stabilized

plus

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

Make rs764196809(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

75834093

Gene

UNC13D

is a	snp
is	mentioned by
dbSNP	rs764196809
dbSNP (classic)	rs764196809
ClinGen	rs764196809
ebi	rs764196809
HLI	rs764196809
Exac	rs764196809
Gnomad	rs764196809
Varsome	rs764196809
LitVar	rs764196809
Map	rs764196809
PheGenI	rs764196809
Biobank	rs764196809
1000 genomes	rs764196809
hgdp	rs764196809
ensembl	rs764196809
geneview	rs764196809
scholar	rs764196809
google	rs764196809
pharmgkb	rs764196809
gwascentral	rs764196809
openSNP	rs764196809
23andMe	rs764196809
SNPshot	rs764196809
SNPdbe	rs764196809
MSV3d	rs764196809
GWAS Ctlg	rs764196809

Max Magnitude

3

aka c.2346_2349delGGAG (p.Arg782Serfs)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

ClinVar
Risk	rs764196809(-;-)
Alt	rs764196809(-;-)
Reference	Rs764196809(CTCC;CTCC)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	UNC13D
CLNDBN	not provided
Reversed	0
HGVS	NC_000017.10:g.73830174_73830177delCTCC
CLNSRC
CLNACC	RCV000483118.1,