rs145882709

Orientation

plus

Stabilized

plus

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

Make rs145882709(A;A)

Make rs145882709(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

112233216

Gene

PTS

is a	snp
is	mentioned by
dbSNP	rs145882709
dbSNP (classic)	rs145882709
ClinGen	rs145882709
ebi	rs145882709
HLI	rs145882709
Exac	rs145882709
Gnomad	rs145882709
Varsome	rs145882709
LitVar	rs145882709
Map	rs145882709
PheGenI	rs145882709
Biobank	rs145882709
1000 genomes	rs145882709
hgdp	rs145882709
ensembl	rs145882709
geneview	rs145882709
scholar	rs145882709
google	rs145882709
pharmgkb	rs145882709
gwascentral	rs145882709
openSNP	rs145882709
23andMe	rs145882709
SNPshot	rs145882709
SNPdbe	rs145882709
MSV3d	rs145882709
GWAS Ctlg	rs145882709

Max Magnitude

0

ClinVar
Risk	rs145882709(A;A)
Alt	rs145882709(A;A)
Reference	Rs145882709(C;C)
Significance	Probable-Pathogenic
Disease	6-pyruvoyl-tetrahydropterin synthase deficiency
Variation	info
Gene	PTS
CLNDBN	6-pyruvoyl-tetrahydropterin synthase deficiency
Reversed	0
HGVS	NC_000011.9:g.112103939C>A
CLNSRC
CLNACC	RCV000410240.1,