rs398122922

Orientation

plus

Stabilized

plus

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

Make rs398122922(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

72891345

Gene

SPR

is a	snp
is	mentioned by
dbSNP	rs398122922
dbSNP (classic)	rs398122922
ClinGen	rs398122922
ebi	rs398122922
HLI	rs398122922
Exac	rs398122922
Gnomad	rs398122922
Varsome	rs398122922
LitVar	rs398122922
Map	rs398122922
PheGenI	rs398122922
Biobank	rs398122922
1000 genomes	rs398122922
hgdp	rs398122922
ensembl	rs398122922
geneview	rs398122922
scholar	rs398122922
google	rs398122922
pharmgkb	rs398122922
gwascentral	rs398122922
openSNP	rs398122922
23andMe	rs398122922
SNPshot	rs398122922
SNPdbe	rs398122922
MSV3d	rs398122922
GWAS Ctlg	rs398122922

Max Magnitude

3

aka c.596-2A>G

ClinVar
Risk	rs398122922(G;G)
Alt	rs398122922(G;G)
Reference	Rs398122922(A;A)
Significance	Pathogenic
Disease	Sepiapterin reductase deficiency
Variation	info
Gene	SPR
CLNDBN	Sepiapterin reductase deficiency
Reversed	0
HGVS	NC_000002.11:g.73118474A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033096.24,