rs104894278

Orientation

plus

Stabilized

plus

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

Make rs104894278(A;G)

Make rs104894278(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112228649

Gene

PTS

is a	snp
is	mentioned by
dbSNP	rs104894278
dbSNP (classic)	rs104894278
ClinGen	rs104894278
ebi	rs104894278
HLI	rs104894278
Exac	rs104894278
Gnomad	rs104894278
Varsome	rs104894278
LitVar	rs104894278
Map	rs104894278
PheGenI	rs104894278
Biobank	rs104894278
1000 genomes	rs104894278
hgdp	rs104894278
ensembl	rs104894278
geneview	rs104894278
scholar	rs104894278
google	rs104894278
pharmgkb	rs104894278
gwascentral	rs104894278
openSNP	rs104894278
23andMe	rs104894278
SNPshot	rs104894278
SNPdbe	rs104894278
MSV3d	rs104894278
GWAS Ctlg	rs104894278

Max Magnitude

0

OMIM	612719
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894278(G;G)
Alt	rs104894278(G;G)
Reference	Rs104894278(A;A)
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.112099372A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000511.3,