rs104894451

Orientation

plus

Stabilized

plus

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

Make rs104894451(C;C)

Make rs104894451(C;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

20476432

Gene

PNP

is a	snp
is	mentioned by
dbSNP	rs104894451
dbSNP (classic)	rs104894451
ClinGen	rs104894451
ebi	rs104894451
HLI	rs104894451
Exac	rs104894451
Gnomad	rs104894451
Varsome	rs104894451
LitVar	rs104894451
Map	rs104894451
PheGenI	rs104894451
Biobank	rs104894451
1000 genomes	rs104894451
hgdp	rs104894451
ensembl	rs104894451
geneview	rs104894451
scholar	rs104894451
google	rs104894451
pharmgkb	rs104894451
gwascentral	rs104894451
openSNP	rs104894451
23andMe	rs104894451
SNPshot	rs104894451
SNPdbe	rs104894451
MSV3d	rs104894451
GWAS Ctlg	rs104894451

Max Magnitude

0

OMIM	164050
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894451(A;A) rs104894451(C;C)
Alt	rs104894451(A;A) rs104894451(C;C)
Reference	Rs104894451(G;G)
Significance	Pathogenic
Disease	Purine-nucleoside phosphorylase deficiency not provided
Variation	info
Gene	PNP
CLNDBN	Purine-nucleoside phosphorylase deficiency not provided
Reversed	0
HGVS	NC_000014.8:g.20944591G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015028.22, RCV000419921.1,