rs28933376

Orientation

minus

Stabilized

minus

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

Make rs28933376(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

70598417

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs28933376
dbSNP (classic)	rs28933376
ClinGen	rs28933376
ebi	rs28933376
HLI	rs28933376
Exac	rs28933376
Gnomad	rs28933376
Varsome	rs28933376
LitVar	rs28933376
Map	rs28933376
PheGenI	rs28933376
Biobank	rs28933376
1000 genomes	rs28933376
hgdp	rs28933376
ensembl	rs28933376
geneview	rs28933376
scholar	rs28933376
google	rs28933376
pharmgkb	rs28933376
gwascentral	rs28933376
openSNP	rs28933376
23andMe	rs28933376
SNPshot	rs28933376
SNPdbe	rs28933376
MSV3d	rs28933376
GWAS Ctlg	rs28933376

Max Magnitude

3

c.1304C>T (p.Thr435Met)

OMIM	170280
Desc	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Variant	0010
Related	also

ClinVar
Risk	rs28933376(T;T)
Alt	rs28933376(T;T)
Reference	Rs28933376(C;C)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	PRF1
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 2
Reversed	1
HGVS	NC_000010.10:g.72358173G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014718.24,