rs885822

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs885822(C;T)

Make rs885822(T;T)

Reference

GRCh38 38.1/142

Chromosome

10

Position

70598821

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs885822
dbSNP (classic)	rs885822
ClinGen	rs885822
ebi	rs885822
HLI	rs885822
Exac	rs885822
Gnomad	rs885822
Varsome	rs885822
LitVar	rs885822
Map	rs885822
PheGenI	rs885822
Biobank	rs885822
1000 genomes	rs885822
hgdp	rs885822
ensembl	rs885822
geneview	rs885822
scholar	rs885822
google	rs885822
pharmgkb	rs885822
gwascentral	rs885822
openSNP	rs885822
23andMe	rs885822
SNPshot	rs885822
SNPdbe	rs885822
MSV3d	rs885822
GWAS Ctlg	rs885822

GMAF

0.3099

Max Magnitude

0

?

(C;C) (C;T) (T;T)

28

[PMID 20921521] Gender-associated differences of perforin polymorphisms in the susceptibility to multiple sclerosis

[PMID 16385451 ] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

[PMID 17705862 ] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.

[PMID 18311812 ] Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis.

[PMID 21157294] A polymorphism in PRF1 gene is associated with HIV-1 vertical transmission in Brazilian children.

ClinVar
Risk	rs885822(T;T)
Alt	rs885822(T;T)
Reference	Rs885822(C;C)
Significance	Non-pathogenic
Disease	not specified Familial hemophagocytic lymphohistiocytosis
Variation	info
Gene	PRF1
CLNDBN	not specified Familial hemophagocytic lymphohistiocytosis
Reversed	1
HGVS	NC_000010.10:g.72358577G>A
CLNSRC
CLNACC	RCV000248849.1, RCV000306406.1,