rs747169857

Orientation

plus

Stabilized

plus

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

Make rs747169857(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

75840050

Gene

UNC13D

is a	snp
is	mentioned by
dbSNP	rs747169857
dbSNP (classic)	rs747169857
ClinGen	rs747169857
ebi	rs747169857
HLI	rs747169857
Exac	rs747169857
Gnomad	rs747169857
Varsome	rs747169857
LitVar	rs747169857
Map	rs747169857
PheGenI	rs747169857
Biobank	rs747169857
1000 genomes	rs747169857
hgdp	rs747169857
ensembl	rs747169857
geneview	rs747169857
scholar	rs747169857
google	rs747169857
pharmgkb	rs747169857
gwascentral	rs747169857
openSNP	rs747169857
23andMe	rs747169857
SNPshot	rs747169857
SNPdbe	rs747169857
MSV3d	rs747169857
GWAS Ctlg	rs747169857

Max Magnitude

3

aka c.919C>T (p.Gln307Ter)

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

ClinVar
Risk	rs747169857(A;A)
Alt	rs747169857(A;A)
Reference	Rs747169857(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	UNC13D
CLNDBN	not provided
Reversed	0
HGVS	NC_000017.10:g.73836131G>A
CLNSRC
CLNACC	RCV000414378.1,