rs121917746

Orientation

plus

Stabilized

plus

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

Make rs121917746(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

72888364

Gene

SPR

is a	snp
is	mentioned by
dbSNP	rs121917746
dbSNP (classic)	rs121917746
ClinGen	rs121917746
ebi	rs121917746
HLI	rs121917746
Exac	rs121917746
Gnomad	rs121917746
Varsome	rs121917746
LitVar	rs121917746
Map	rs121917746
PheGenI	rs121917746
Biobank	rs121917746
1000 genomes	rs121917746
hgdp	rs121917746
ensembl	rs121917746
geneview	rs121917746
scholar	rs121917746
google	rs121917746
pharmgkb	rs121917746
gwascentral	rs121917746
openSNP	rs121917746
23andMe	rs121917746
SNPshot	rs121917746
SNPdbe	rs121917746
MSV3d	rs121917746
GWAS Ctlg	rs121917746

Max Magnitude

3

aka c.355C>T (p.Gln119Ter)

OMIM	182125
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121917746(T;T)
Alt	rs121917746(T;T)
Reference	Rs121917746(C;C)
Significance	Pathogenic
Disease	Sepiapterin reductase deficiency
Variation	info
Gene	SPR
CLNDBN	Sepiapterin reductase deficiency
Reversed	0
HGVS	NC_000002.11:g.73115493C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013802.24,