rs104894455

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs104894455(C;T)

Make rs104894455(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

20472366

Gene

PNP

is a	snp
is	mentioned by
dbSNP	rs104894455
dbSNP (classic)	rs104894455
ClinGen	rs104894455
ebi	rs104894455
HLI	rs104894455
Exac	rs104894455
Gnomad	rs104894455
Varsome	rs104894455
LitVar	rs104894455
Map	rs104894455
PheGenI	rs104894455
Biobank	rs104894455
1000 genomes	rs104894455
hgdp	rs104894455
ensembl	rs104894455
geneview	rs104894455
scholar	rs104894455
google	rs104894455
pharmgkb	rs104894455
gwascentral	rs104894455
openSNP	rs104894455
23andMe	rs104894455
SNPshot	rs104894455
SNPdbe	rs104894455
MSV3d	rs104894455
GWAS Ctlg	rs104894455

Max Magnitude

0

OMIM	164050
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894455(T;T)
Alt	rs104894455(T;T)
Reference	Rs104894455(C;C)
Significance	Pathogenic
Disease	Purine-nucleoside phosphorylase deficiency
Variation	info
Gene	PNP
CLNDBN	Purine-nucleoside phosphorylase deficiency
Reversed	0
HGVS	NC_000014.8:g.20940525C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015032.21,