rs104893666

Orientation

plus

Stabilized

plus

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

Make rs104893666(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

72888497

Gene

SPR

is a	snp
is	mentioned by
dbSNP	rs104893666
dbSNP (classic)	rs104893666
ClinGen	rs104893666
ebi	rs104893666
HLI	rs104893666
Exac	rs104893666
Gnomad	rs104893666
Varsome	rs104893666
LitVar	rs104893666
Map	rs104893666
PheGenI	rs104893666
Biobank	rs104893666
1000 genomes	rs104893666
hgdp	rs104893666
ensembl	rs104893666
geneview	rs104893666
scholar	rs104893666
google	rs104893666
pharmgkb	rs104893666
gwascentral	rs104893666
openSNP	rs104893666
23andMe	rs104893666
SNPshot	rs104893666
SNPdbe	rs104893666
MSV3d	rs104893666
GWAS Ctlg	rs104893666

Max Magnitude

3

aka c.488C>T (p.Pro163Leu)

OMIM	182125
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893666(T;T)
Alt	rs104893666(T;T)
Reference	Rs104893666(C;C)
Significance	Pathogenic
Disease	Sepiapterin reductase deficiency
Variation	info
Gene	SPR
CLNDBN	Sepiapterin reductase deficiency
Reversed	0
HGVS	NC_000002.11:g.73115626C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013806.24,