Rs104894454

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs104894454
PheGenI	rs104894454
nextbio	rs104894454
hapmap	rs104894454
1000 genomes	rs104894454
hgdp	rs104894454
ensembl	rs104894454
gopubmed	rs104894454
geneview	rs104894454
scholar	rs104894454
google	rs104894454
pharmgkb	rs104894454
gwascentral	rs104894454
openSNP	rs104894454
23andMe	rs104894454
23andMe all	rs104894454
SNP Nexus
SNPshot	rs104894454
SNPdbe	rs104894454
MSV3d	rs104894454

Gene

PNP

Chromosome

14

Orientation

plus

Position

20943279

Reference

GRCh37 37.1/132

Max Magnitude

0

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

Make rs104894454(C;C)

Make rs104894454(C;G)

OMIM	164050
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894454(C;C)
Normal	rs104894454(G;G)
Significance	5
Disease	Purine-nucleoside phosphorylase deficiency
ClinVar	info
Gene	PNP
CLNDBN	Purine-nucleoside phosphorylase deficiency
Reversed	0
CLNHGVS	NC_000014.8:g.20943279G>C
CLNSRC	OMIM Allelic Variant