rs28933375

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	1.8	Missense mutation in PRF1 gene, probably recessive
(G;G)	5	Familial Hemophagocytic Lymphohistiocytosis and Lymphoma

Reference

GRCh38 38.1/141

Chromosome

10

Position

70598966

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs28933375
dbSNP (classic)	rs28933375
ClinGen	rs28933375
ebi	rs28933375
HLI	rs28933375
Exac	rs28933375
Gnomad	rs28933375
Varsome	rs28933375
LitVar	rs28933375
Map	rs28933375
PheGenI	rs28933375
Biobank	rs28933375
1000 genomes	rs28933375
hgdp	rs28933375
ensembl	rs28933375
geneview	rs28933375
scholar	rs28933375
google	rs28933375
pharmgkb	rs28933375
gwascentral	rs28933375
openSNP	rs28933375
23andMe	rs28933375
SNPshot	rs28933375
SNPdbe	rs28933375
MSV3d	rs28933375
GWAS Ctlg	rs28933375

GMAF

0.005969

Max Magnitude

5

OMIM	170280
Desc	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Variant	0009
Related	also

ClinVar
Risk	Rs28933375(G;G)
Alt	Rs28933375(G;G)
Reference	Rs28933375(A;A)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis Malignant lymphoma not specified
Variation	info
Gene	PRF1
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 2 Malignant lymphoma, non-Hodgkin not specified
Reversed	1
HGVS	NC_000010.10:g.72358722T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014716.26, RCV000014717.26, RCV000246747.1,