rs794726657

Orientation

plus

Stabilized

plus

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

Make rs794726657(A;T)

Make rs794726657(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

112228271

Gene

PTS

is a	snp
is	mentioned by
dbSNP	rs794726657
dbSNP (classic)	rs794726657
ClinGen	rs794726657
ebi	rs794726657
HLI	rs794726657
Exac	rs794726657
Gnomad	rs794726657
Varsome	rs794726657
LitVar	rs794726657
Map	rs794726657
PheGenI	rs794726657
Biobank	rs794726657
1000 genomes	rs794726657
hgdp	rs794726657
ensembl	rs794726657
geneview	rs794726657
scholar	rs794726657
google	rs794726657
pharmgkb	rs794726657
gwascentral	rs794726657
openSNP	rs794726657
23andMe	rs794726657
SNPshot	rs794726657
SNPdbe	rs794726657
MSV3d	rs794726657
GWAS Ctlg	rs794726657

Max Magnitude

0

ClinVar
Risk	rs794726657(T;T)
Alt	rs794726657(T;T)
Reference	Rs794726657(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.112098994A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000515.4,