rs794726656

Orientation

plus

Stabilized

plus

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

Make rs794726656(-;-)

Make rs794726656(-;GTTCTTCCTGTAGG)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

112233478

Gene

PTS

is a	snp
is	mentioned by
dbSNP	rs794726656
dbSNP (classic)	rs794726656
ClinGen	rs794726656
ebi	rs794726656
HLI	rs794726656
Exac	rs794726656
Gnomad	rs794726656
Varsome	rs794726656
LitVar	rs794726656
Map	rs794726656
PheGenI	rs794726656
Biobank	rs794726656
1000 genomes	rs794726656
hgdp	rs794726656
ensembl	rs794726656
geneview	rs794726656
scholar	rs794726656
google	rs794726656
pharmgkb	rs794726656
gwascentral	rs794726656
openSNP	rs794726656
23andMe	rs794726656
SNPshot	rs794726656
SNPdbe	rs794726656
MSV3d	rs794726656
GWAS Ctlg	rs794726656

Max Magnitude

0

ClinVar
Risk	rs794726656(-;-)
Alt	rs794726656(-;-)
Reference	Rs794726656(GTTCTTCCTGTAGG;GTTCTTCCTGTAGG)
Significance	Pathogenic
Disease	Hyperphenylalaninemia
Variation	info
Gene	PTS
CLNDBN	Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency
Reversed	0
HGVS	NC_000011.9:g.112104201_112104214delGTTCTTCCTGTAGG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000507.3,