rs104894452

Orientation

plus

Stabilized

plus

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

Make rs104894452(A;G)

Make rs104894452(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

20475175

Gene

PNP

is a	snp
is	mentioned by
dbSNP	rs104894452
dbSNP (classic)	rs104894452
ClinGen	rs104894452
ebi	rs104894452
HLI	rs104894452
Exac	rs104894452
Gnomad	rs104894452
Varsome	rs104894452
LitVar	rs104894452
Map	rs104894452
PheGenI	rs104894452
Biobank	rs104894452
1000 genomes	rs104894452
hgdp	rs104894452
ensembl	rs104894452
geneview	rs104894452
scholar	rs104894452
google	rs104894452
pharmgkb	rs104894452
gwascentral	rs104894452
openSNP	rs104894452
23andMe	rs104894452
SNPshot	rs104894452
SNPdbe	rs104894452
MSV3d	rs104894452
GWAS Ctlg	rs104894452

Max Magnitude

0

OMIM	164050
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894452(G;G)
Alt	rs104894452(G;G)
Reference	Rs104894452(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.20943334A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015030.25,