rs104894453

Orientation

plus

Stabilized

plus

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

Make rs104894453(A;A)

Make rs104894453(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

20474555

Gene

PNP

is a	snp
is	mentioned by
dbSNP	rs104894453
dbSNP (classic)	rs104894453
ClinGen	rs104894453
ebi	rs104894453
HLI	rs104894453
Exac	rs104894453
Gnomad	rs104894453
Varsome	rs104894453
LitVar	rs104894453
Map	rs104894453
PheGenI	rs104894453
Biobank	rs104894453
1000 genomes	rs104894453
hgdp	rs104894453
ensembl	rs104894453
geneview	rs104894453
scholar	rs104894453
google	rs104894453
pharmgkb	rs104894453
gwascentral	rs104894453
openSNP	rs104894453
23andMe	rs104894453
SNPshot	rs104894453
SNPdbe	rs104894453
MSV3d	rs104894453
GWAS Ctlg	rs104894453

Max Magnitude

0

OMIM	164050
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894453(A;A)
Alt	rs104894453(A;A)
Reference	Rs104894453(G;G)
Significance	Pathogenic
Disease	Purine-nucleoside phosphorylase deficiency
Variation	info
Gene	PNP
CLNDBN	Purine-nucleoside phosphorylase deficiency
Reversed	0
HGVS	NC_000014.8:g.20942714G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015025.25,