rs751247865

Orientation

plus

Stabilized

plus

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

Make rs751247865(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

10

Position

70599055

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs751247865
dbSNP (classic)	rs751247865
ClinGen	rs751247865
ebi	rs751247865
HLI	rs751247865
Exac	rs751247865
Gnomad	rs751247865
Varsome	rs751247865
LitVar	rs751247865
Map	rs751247865
PheGenI	rs751247865
Biobank	rs751247865
1000 genomes	rs751247865
hgdp	rs751247865
ensembl	rs751247865
geneview	rs751247865
scholar	rs751247865
google	rs751247865
pharmgkb	rs751247865
gwascentral	rs751247865
openSNP	rs751247865
23andMe	rs751247865
SNPshot	rs751247865
SNPdbe	rs751247865
MSV3d	rs751247865
GWAS Ctlg	rs751247865

Max Magnitude

3

c.666C>A (p.His222Gln)

ClinVar
Risk	rs751247865(T;T)
Alt	rs751247865(T;T)
Reference	Rs751247865(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	PRF1
CLNDBN	not provided
Reversed	0
HGVS	NC_000010.10:g.72358811G>T
CLNSRC
CLNACC	RCV000349901.1,