rs193302875

Orientation

minus

Stabilized

minus

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

Make rs193302875(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

70598558

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs193302875
dbSNP (classic)	rs193302875
ClinGen	rs193302875
ebi	rs193302875
HLI	rs193302875
Exac	rs193302875
Gnomad	rs193302875
Varsome	rs193302875
LitVar	rs193302875
Map	rs193302875
PheGenI	rs193302875
Biobank	rs193302875
1000 genomes	rs193302875
hgdp	rs193302875
ensembl	rs193302875
geneview	rs193302875
scholar	rs193302875
google	rs193302875
pharmgkb	rs193302875
gwascentral	rs193302875
openSNP	rs193302875
23andMe	rs193302875
SNPshot	rs193302875
SNPdbe	rs193302875
MSV3d	rs193302875
GWAS Ctlg	rs193302875

Max Magnitude

3

c.1163G>T (p.Ser388Ile)

ClinVar
Risk	rs193302875(T;T)
Alt	rs193302875(T;T)
Reference	Rs193302875(G;G)
Significance	Pathogenic
Disease	Aplastic anemia
Variation	info
Gene	PRF1
CLNDBN	Aplastic anemia
Reversed	1
HGVS	NC_000010.10:g.72358314C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014722.23,