rs104894460

Orientation

plus

Stabilized

plus

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

Make rs104894460(C;T)

Make rs104894460(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

20472468

Gene

PNP

is a	snp
is	mentioned by
dbSNP	rs104894460
dbSNP (classic)	rs104894460
ClinGen	rs104894460
ebi	rs104894460
HLI	rs104894460
Exac	rs104894460
Gnomad	rs104894460
Varsome	rs104894460
LitVar	rs104894460
Map	rs104894460
PheGenI	rs104894460
Biobank	rs104894460
1000 genomes	rs104894460
hgdp	rs104894460
ensembl	rs104894460
geneview	rs104894460
scholar	rs104894460
google	rs104894460
pharmgkb	rs104894460
gwascentral	rs104894460
openSNP	rs104894460
23andMe	rs104894460
SNPshot	rs104894460
SNPdbe	rs104894460
MSV3d	rs104894460
GWAS Ctlg	rs104894460

Max Magnitude

0

OMIM	164050
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894460(T;T)
Alt	rs104894460(T;T)
Reference	Rs104894460(C;C)
Significance	Pathogenic
Disease	Purine-nucleoside phosphorylase deficiency
Variation	info
Gene	PNP
CLNDBN	Purine-nucleoside phosphorylase deficiency
Reversed	0
HGVS	NC_000014.8:g.20940627C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015033.26,