rs104894450

Orientation

plus

Stabilized

plus

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

Make rs104894450(A;G)

Make rs104894450(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

20474870

Gene

PNP

is a	snp
is	mentioned by
dbSNP	rs104894450
dbSNP (classic)	rs104894450
ClinGen	rs104894450
ebi	rs104894450
HLI	rs104894450
Exac	rs104894450
Gnomad	rs104894450
Varsome	rs104894450
LitVar	rs104894450
Map	rs104894450
PheGenI	rs104894450
Biobank	rs104894450
1000 genomes	rs104894450
hgdp	rs104894450
ensembl	rs104894450
geneview	rs104894450
scholar	rs104894450
google	rs104894450
pharmgkb	rs104894450
gwascentral	rs104894450
openSNP	rs104894450
23andMe	rs104894450
SNPshot	rs104894450
SNPdbe	rs104894450
MSV3d	rs104894450
GWAS Ctlg	rs104894450

Max Magnitude

0

OMIM	164050
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894450(G;G)
Alt	rs104894450(G;G)
Reference	Rs104894450(A;A)
Significance	Pathogenic
Disease	Purine-nucleoside phosphorylase deficiency
Variation	info
Gene	PNP
CLNDBN	Purine-nucleoside phosphorylase deficiency
Reversed	0
HGVS	NC_000014.8:g.20943029A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015027.22,