rs104894181

Orientation

minus

Stabilized

minus

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

Make rs104894181(A;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

70598435

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs104894181
dbSNP (classic)	rs104894181
ClinGen	rs104894181
ebi	rs104894181
HLI	rs104894181
Exac	rs104894181
Gnomad	rs104894181
Varsome	rs104894181
LitVar	rs104894181
Map	rs104894181
PheGenI	rs104894181
Biobank	rs104894181
1000 genomes	rs104894181
hgdp	rs104894181
ensembl	rs104894181
geneview	rs104894181
scholar	rs104894181
google	rs104894181
pharmgkb	rs104894181
gwascentral	rs104894181
openSNP	rs104894181
23andMe	rs104894181
SNPshot	rs104894181
SNPdbe	rs104894181
MSV3d	rs104894181
GWAS Ctlg	rs104894181

Max Magnitude

3

c.1286G>A (p.Gly429Glu)

23andMe name: i5000834

OMIM	170280
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894181(A;A)
Alt	rs104894181(A;A)
Reference	Rs104894181(G;G)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	PRF1
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 2
Reversed	1
HGVS	NC_000010.10:g.72358191C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014712.27,