rs104893864

Orientation

minus

Stabilized

minus

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

Make rs104893864(G;G)

Make rs104893864(G;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

17501833

Gene

QDPR

is a	snp
is	mentioned by
dbSNP	rs104893864
dbSNP (classic)	rs104893864
ClinGen	rs104893864
ebi	rs104893864
HLI	rs104893864
Exac	rs104893864
Gnomad	rs104893864
Varsome	rs104893864
LitVar	rs104893864
Map	rs104893864
PheGenI	rs104893864
Biobank	rs104893864
1000 genomes	rs104893864
hgdp	rs104893864
ensembl	rs104893864
geneview	rs104893864
scholar	rs104893864
google	rs104893864
pharmgkb	rs104893864
gwascentral	rs104893864
openSNP	rs104893864
23andMe	rs104893864
SNPshot	rs104893864
SNPdbe	rs104893864
MSV3d	rs104893864
GWAS Ctlg	rs104893864

Max Magnitude

0

OMIM	612676
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104893864(G;G)
Alt	rs104893864(G;G)
Reference	Rs104893864(T;T)
Significance	Pathogenic
Disease	Dihydropteridine reductase deficiency
Variation	info
Gene	QDPR
CLNDBN	Dihydropteridine reductase deficiency
Reversed	1
HGVS	NC_000004.11:g.17503456A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000520.2,