rs104894275

Orientation

plus

Stabilized

plus

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

Make rs104894275(A;G)

Make rs104894275(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112228665

Gene

PTS

is a	snp
is	mentioned by
dbSNP	rs104894275
dbSNP (classic)	rs104894275
ClinGen	rs104894275
ebi	rs104894275
HLI	rs104894275
Exac	rs104894275
Gnomad	rs104894275
Varsome	rs104894275
LitVar	rs104894275
Map	rs104894275
PheGenI	rs104894275
Biobank	rs104894275
1000 genomes	rs104894275
hgdp	rs104894275
ensembl	rs104894275
geneview	rs104894275
scholar	rs104894275
google	rs104894275
pharmgkb	rs104894275
gwascentral	rs104894275
openSNP	rs104894275
23andMe	rs104894275
SNPshot	rs104894275
SNPdbe	rs104894275
MSV3d	rs104894275
GWAS Ctlg	rs104894275

Max Magnitude

0

OMIM	612719
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894275(G;G)
Alt	rs104894275(G;G)
Reference	Rs104894275(A;A)
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.112099388A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000508.3,