rs104894182

Orientation

minus

Stabilized

minus

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

Make rs104894182(A;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

70598885

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs104894182
dbSNP (classic)	rs104894182
ClinGen	rs104894182
ebi	rs104894182
HLI	rs104894182
Exac	rs104894182
Gnomad	rs104894182
Varsome	rs104894182
LitVar	rs104894182
Map	rs104894182
PheGenI	rs104894182
Biobank	rs104894182
1000 genomes	rs104894182
hgdp	rs104894182
ensembl	rs104894182
geneview	rs104894182
scholar	rs104894182
google	rs104894182
pharmgkb	rs104894182
gwascentral	rs104894182
openSNP	rs104894182
23andMe	rs104894182
SNPshot	rs104894182
SNPdbe	rs104894182
MSV3d	rs104894182
GWAS Ctlg	rs104894182

Max Magnitude

3

c.836G>A (p.Cys279Tyr)

23andMe name: i5000833

OMIM	170280
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894182(A;A)
Alt	rs104894182(A;A)
Reference	Rs104894182(G;G)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	PRF1
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 2
Reversed	1
HGVS	NC_000010.10:g.72358641C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014714.26,