rs104894276

Orientation

plus

Stabilized

plus

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

Make rs104894276(C;T)

Make rs104894276(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112233178

Gene

PTS

is a	snp
is	mentioned by
dbSNP	rs104894276
dbSNP (classic)	rs104894276
ClinGen	rs104894276
ebi	rs104894276
HLI	rs104894276
Exac	rs104894276
Gnomad	rs104894276
Varsome	rs104894276
LitVar	rs104894276
Map	rs104894276
PheGenI	rs104894276
Biobank	rs104894276
1000 genomes	rs104894276
hgdp	rs104894276
ensembl	rs104894276
geneview	rs104894276
scholar	rs104894276
google	rs104894276
pharmgkb	rs104894276
gwascentral	rs104894276
openSNP	rs104894276
23andMe	rs104894276
SNPshot	rs104894276
SNPdbe	rs104894276
MSV3d	rs104894276
GWAS Ctlg	rs104894276

GMAF

0.0004591

Max Magnitude

0

OMIM	612719
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894276(G;G) rs104894276(T;T)
Alt	rs104894276(G;G) rs104894276(T;T)
Reference	Rs104894276(C;C)
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.112103901C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000509.3,