rs104894183

Orientation

minus

Stabilized

minus

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

Make rs104894183(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

70599173

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs104894183
dbSNP (classic)	rs104894183
ClinGen	rs104894183
ebi	rs104894183
HLI	rs104894183
Exac	rs104894183
Gnomad	rs104894183
Varsome	rs104894183
LitVar	rs104894183
Map	rs104894183
PheGenI	rs104894183
Biobank	rs104894183
1000 genomes	rs104894183
hgdp	rs104894183
ensembl	rs104894183
geneview	rs104894183
scholar	rs104894183
google	rs104894183
pharmgkb	rs104894183
gwascentral	rs104894183
openSNP	rs104894183
23andMe	rs104894183
SNPshot	rs104894183
SNPdbe	rs104894183
MSV3d	rs104894183
GWAS Ctlg	rs104894183

Max Magnitude

3

c.548T>G (p.Val183Gly)

23andMe name: i5000832

OMIM	170280
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894183(G;G)
Alt	rs104894183(G;G)
Reference	Rs104894183(T;T)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	PRF1
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 2
Reversed	1
HGVS	NC_000010.10:g.72358929A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014715.24,