rs104894454

Orientation

plus

Stabilized

plus

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

Make rs104894454(C;C)

Make rs104894454(C;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

20475120

Gene

PNP

is a	snp
is	mentioned by
dbSNP	rs104894454
dbSNP (classic)	rs104894454
ClinGen	rs104894454
ebi	rs104894454
HLI	rs104894454
Exac	rs104894454
Gnomad	rs104894454
Varsome	rs104894454
LitVar	rs104894454
Map	rs104894454
PheGenI	rs104894454
Biobank	rs104894454
1000 genomes	rs104894454
hgdp	rs104894454
ensembl	rs104894454
geneview	rs104894454
scholar	rs104894454
google	rs104894454
pharmgkb	rs104894454
gwascentral	rs104894454
openSNP	rs104894454
23andMe	rs104894454
SNPshot	rs104894454
SNPdbe	rs104894454
MSV3d	rs104894454
GWAS Ctlg	rs104894454

Max Magnitude

0

OMIM	164050
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894454(C;C) rs104894454(T;T)
Alt	rs104894454(C;C) rs104894454(T;T)
Reference	Rs104894454(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.20943279G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015026.24,