rs104894180

Orientation

minus

Stabilized

minus

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

Make rs104894180(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

70600713

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs104894180
dbSNP (classic)	rs104894180
ClinGen	rs104894180
ebi	rs104894180
HLI	rs104894180
Exac	rs104894180
Gnomad	rs104894180
Varsome	rs104894180
LitVar	rs104894180
Map	rs104894180
PheGenI	rs104894180
Biobank	rs104894180
1000 genomes	rs104894180
hgdp	rs104894180
ensembl	rs104894180
geneview	rs104894180
scholar	rs104894180
google	rs104894180
pharmgkb	rs104894180
gwascentral	rs104894180
openSNP	rs104894180
23andMe	rs104894180
SNPshot	rs104894180
SNPdbe	rs104894180
MSV3d	rs104894180
GWAS Ctlg	rs104894180

Max Magnitude

3

c.190C>T (p.Gln64Ter)

23andMe name: i5000835

OMIM	170280
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894180(T;T)
Alt	rs104894180(T;T)
Reference	Rs104894180(C;C)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	PRF1
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 2
Reversed	1
HGVS	NC_000010.10:g.72360469G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014710.27,