rs193302876

Orientation

minus

Stabilized

minus

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

Make rs193302876(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

70598475

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs193302876
dbSNP (classic)	rs193302876
ClinGen	rs193302876
ebi	rs193302876
HLI	rs193302876
Exac	rs193302876
Gnomad	rs193302876
Varsome	rs193302876
LitVar	rs193302876
Map	rs193302876
PheGenI	rs193302876
Biobank	rs193302876
1000 genomes	rs193302876
hgdp	rs193302876
ensembl	rs193302876
geneview	rs193302876
scholar	rs193302876
google	rs193302876
pharmgkb	rs193302876
gwascentral	rs193302876
openSNP	rs193302876
23andMe	rs193302876
SNPshot	rs193302876
SNPdbe	rs193302876
MSV3d	rs193302876
GWAS Ctlg	rs193302876

Max Magnitude

3

c.1246C>T (p.Gln416Ter)

23andMe name: i5000830

ClinVar
Risk	rs193302876(T;T)
Alt	rs193302876(T;T)
Reference	Rs193302876(C;C)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	PRF1
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 2
Reversed	1
HGVS	NC_000010.10:g.72358231G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014726.23,