rs121917747

Orientation

plus

Stabilized

plus

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

Make rs121917747(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

72891502

Gene

SPR

is a	snp
is	mentioned by
dbSNP	rs121917747
dbSNP (classic)	rs121917747
ClinGen	rs121917747
ebi	rs121917747
HLI	rs121917747
Exac	rs121917747
Gnomad	rs121917747
Varsome	rs121917747
LitVar	rs121917747
Map	rs121917747
PheGenI	rs121917747
Biobank	rs121917747
1000 genomes	rs121917747
hgdp	rs121917747
ensembl	rs121917747
geneview	rs121917747
scholar	rs121917747
google	rs121917747
pharmgkb	rs121917747
gwascentral	rs121917747
openSNP	rs121917747
23andMe	rs121917747
SNPshot	rs121917747
SNPdbe	rs121917747
MSV3d	rs121917747
GWAS Ctlg	rs121917747

Max Magnitude

3

aka c.751A>T (p.Lys251Ter)

OMIM	182125
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121917747(T;T)
Alt	rs121917747(T;T)
Reference	Rs121917747(A;A)
Significance	Pathogenic
Disease	Sepiapterin reductase deficiency
Variation	info
Gene	SPR
CLNDBN	Sepiapterin reductase deficiency
Reversed	0
HGVS	NC_000002.11:g.73118631A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013807.25,