rs104893665

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of a SPR deficiency mutation

Make rs104893665(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

72888457

Gene

SPR

is a	snp
is	mentioned by
dbSNP	rs104893665
dbSNP (classic)	rs104893665
ClinGen	rs104893665
ebi	rs104893665
HLI	rs104893665
Exac	rs104893665
Gnomad	rs104893665
Varsome	rs104893665
LitVar	rs104893665
Map	rs104893665
PheGenI	rs104893665
Biobank	rs104893665
1000 genomes	rs104893665
hgdp	rs104893665
ensembl	rs104893665
geneview	rs104893665
scholar	rs104893665
google	rs104893665
pharmgkb	rs104893665
gwascentral	rs104893665
openSNP	rs104893665
23andMe	rs104893665
SNPshot	rs104893665
SNPdbe	rs104893665
MSV3d	rs104893665
GWAS Ctlg	rs104893665

Max Magnitude

3

aka c.448A>G (p.Arg150Gly)

OMIM	182125
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104893665(G;G)
Alt	rs104893665(G;G)
Reference	Rs104893665(A;A)
Significance	Pathogenic
Disease	Sepiapterin reductase deficiency
Variation	info
Gene	SPR
CLNDBN	Sepiapterin reductase deficiency
Reversed	0
HGVS	NC_000002.11:g.73115586A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013804.18,