rs777759523

Orientation

plus

Stabilized

plus

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

Make rs777759523(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

75836338

Gene

UNC13D

is a	snp
is	mentioned by
dbSNP	rs777759523
dbSNP (classic)	rs777759523
ClinGen	rs777759523
ebi	rs777759523
HLI	rs777759523
Exac	rs777759523
Gnomad	rs777759523
Varsome	rs777759523
LitVar	rs777759523
Map	rs777759523
PheGenI	rs777759523
Biobank	rs777759523
1000 genomes	rs777759523
hgdp	rs777759523
ensembl	rs777759523
geneview	rs777759523
scholar	rs777759523
google	rs777759523
pharmgkb	rs777759523
gwascentral	rs777759523
openSNP	rs777759523
23andMe	rs777759523
SNPshot	rs777759523
SNPdbe	rs777759523
MSV3d	rs777759523
GWAS Ctlg	rs777759523

Max Magnitude

3

aka c.1389+1G>A

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

ClinVar
Risk	rs777759523(T;T)
Alt	rs777759523(T;T)
Reference	Rs777759523(C;C)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis not provided Familial hemophagocytic lymphohistiocytosis
Variation	info
Gene	UNC13D
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 3 not provided Familial hemophagocytic lymphohistiocytosis
Reversed	0
HGVS	NC_000017.10:g.73832419C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002076.4, RCV000380656.1, RCV000404518.1,