rs104894280

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs104894280(A;A)

Make rs104894280(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112233205

Gene

PTS

is a	snp
is	mentioned by
dbSNP	rs104894280
dbSNP (classic)	rs104894280
ClinGen	rs104894280
ebi	rs104894280
HLI	rs104894280
Exac	rs104894280
Gnomad	rs104894280
Varsome	rs104894280
LitVar	rs104894280
Map	rs104894280
PheGenI	rs104894280
Biobank	rs104894280
1000 genomes	rs104894280
hgdp	rs104894280
ensembl	rs104894280
geneview	rs104894280
scholar	rs104894280
google	rs104894280
pharmgkb	rs104894280
gwascentral	rs104894280
openSNP	rs104894280
23andMe	rs104894280
SNPshot	rs104894280
SNPdbe	rs104894280
MSV3d	rs104894280
GWAS Ctlg	rs104894280

GMAF

0.0004591

Max Magnitude

0

OMIM	612719
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894280(A;A)
Alt	rs104894280(A;A)
Reference	Rs104894280(G;G)
Significance	Pathogenic
Disease	6-pyruvoyl-tetrahydropterin synthase deficiency
Variation	info
Gene	PTS
CLNDBN	6-pyruvoyl-tetrahydropterin synthase deficiency
Reversed	0
HGVS	NC_000011.9:g.112103928G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000513.2,