rs104893866

Orientation

minus

Stabilized

minus

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

Make rs104893866(A;G)

Make rs104893866(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

17492328

Gene

QDPR

is a	snp
is	mentioned by
dbSNP	rs104893866
dbSNP (classic)	rs104893866
ClinGen	rs104893866
ebi	rs104893866
HLI	rs104893866
Exac	rs104893866
Gnomad	rs104893866
Varsome	rs104893866
LitVar	rs104893866
Map	rs104893866
PheGenI	rs104893866
Biobank	rs104893866
1000 genomes	rs104893866
hgdp	rs104893866
ensembl	rs104893866
geneview	rs104893866
scholar	rs104893866
google	rs104893866
pharmgkb	rs104893866
gwascentral	rs104893866
openSNP	rs104893866
23andMe	rs104893866
SNPshot	rs104893866
SNPdbe	rs104893866
MSV3d	rs104893866
GWAS Ctlg	rs104893866

Max Magnitude

0

OMIM	612676
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104893866(G;G)
Alt	rs104893866(G;G)
Reference	Rs104893866(A;A)
Significance	Pathogenic
Disease	Dihydropteridine reductase deficiency
Variation	info
Gene	QDPR
CLNDBN	Dihydropteridine reductase deficiency
Reversed	1
HGVS	NC_000004.11:g.17493951T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000523.2,