rs766657895

Orientation

plus

Stabilized

plus

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

Make rs766657895(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

17

Position

75830592

Gene

UNC13D

is a	snp
is	mentioned by
dbSNP	rs766657895
dbSNP (classic)	rs766657895
ClinGen	rs766657895
ebi	rs766657895
HLI	rs766657895
Exac	rs766657895
Gnomad	rs766657895
Varsome	rs766657895
LitVar	rs766657895
Map	rs766657895
PheGenI	rs766657895
Biobank	rs766657895
1000 genomes	rs766657895
hgdp	rs766657895
ensembl	rs766657895
geneview	rs766657895
scholar	rs766657895
google	rs766657895
pharmgkb	rs766657895
gwascentral	rs766657895
openSNP	rs766657895
23andMe	rs766657895
SNPshot	rs766657895
SNPdbe	rs766657895
MSV3d	rs766657895
GWAS Ctlg	rs766657895

Max Magnitude

3

aka c.2695C>T (p.Arg899Ter)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

ClinVar
Risk	rs766657895(A;A)
Alt	rs766657895(A;A)
Reference	Rs766657895(G;G)
Significance	Probable-Pathogenic
Disease	Familial hemophagocytic lymphohistiocytosis
Variation	info
Gene	UNC13D
CLNDBN	Familial hemophagocytic lymphohistiocytosis
Reversed	0
HGVS	NC_000017.10:g.73826673G>A
CLNSRC	Illumina
CLNACC	RCV000323586.1,