rs771552960

Orientation

plus

Stabilized

plus

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

Make rs771552960(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

10

Position

70598630

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs771552960
dbSNP (classic)	rs771552960
ClinGen	rs771552960
ebi	rs771552960
HLI	rs771552960
Exac	rs771552960
Gnomad	rs771552960
Varsome	rs771552960
LitVar	rs771552960
Map	rs771552960
PheGenI	rs771552960
Biobank	rs771552960
1000 genomes	rs771552960
hgdp	rs771552960
ensembl	rs771552960
geneview	rs771552960
scholar	rs771552960
google	rs771552960
pharmgkb	rs771552960
gwascentral	rs771552960
openSNP	rs771552960
23andMe	rs771552960
SNPshot	rs771552960
SNPdbe	rs771552960
MSV3d	rs771552960
GWAS Ctlg	rs771552960

Max Magnitude

3

c.1090_1091delCT (p.Leu364Glufs)

ClinVar
Risk	rs771552960(-;-)
Alt	rs771552960(-;-)
Reference	Rs771552960(AG;AG)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	PRF1
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 2
Reversed	0
HGVS	NC_000010.10:g.72358386_72358387delAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014724.27,