rs104894176

Orientation

minus

Stabilized

minus

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

Make rs104894176(A;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

70598599

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs104894176
dbSNP (classic)	rs104894176
ClinGen	rs104894176
ebi	rs104894176
HLI	rs104894176
Exac	rs104894176
Gnomad	rs104894176
Varsome	rs104894176
LitVar	rs104894176
Map	rs104894176
PheGenI	rs104894176
Biobank	rs104894176
1000 genomes	rs104894176
hgdp	rs104894176
ensembl	rs104894176
geneview	rs104894176
scholar	rs104894176
google	rs104894176
pharmgkb	rs104894176
gwascentral	rs104894176
openSNP	rs104894176
23andMe	rs104894176
SNPshot	rs104894176
SNPdbe	rs104894176
MSV3d	rs104894176
GWAS Ctlg	rs104894176

Max Magnitude

3

c.1122G>A (p.Trp374Ter)

23andMe name: i5000837

OMIM	170280
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894176(A;A)
Alt	rs104894176(A;A)
Reference	Rs104894176(G;G)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis Malignant lymphoma
Variation	info
Gene	PRF1
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 2 Malignant lymphoma, non-Hodgkin
Reversed	1
HGVS	NC_000010.10:g.72358355C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014708.27, RCV000014709.24,