rs104894273

Orientation

plus

Stabilized

plus

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

Make rs104894273(A;A)

Make rs104894273(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112226517

Gene

PTS

is a	snp
is	mentioned by
dbSNP	rs104894273
dbSNP (classic)	rs104894273
ClinGen	rs104894273
ebi	rs104894273
HLI	rs104894273
Exac	rs104894273
Gnomad	rs104894273
Varsome	rs104894273
LitVar	rs104894273
Map	rs104894273
PheGenI	rs104894273
Biobank	rs104894273
1000 genomes	rs104894273
hgdp	rs104894273
ensembl	rs104894273
geneview	rs104894273
scholar	rs104894273
google	rs104894273
pharmgkb	rs104894273
gwascentral	rs104894273
openSNP	rs104894273
23andMe	rs104894273
SNPshot	rs104894273
SNPdbe	rs104894273
MSV3d	rs104894273
GWAS Ctlg	rs104894273

Max Magnitude

0

OMIM	612719
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894273(A;A)
Alt	rs104894273(A;A)
Reference	Rs104894273(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.112097240G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000505.2,