rs104894279

Orientation

plus

Stabilized

plus

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

Make rs104894279(A;G)

Make rs104894279(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112233464

Gene

PTS

is a	snp
is	mentioned by
dbSNP	rs104894279
dbSNP (classic)	rs104894279
ClinGen	rs104894279
ebi	rs104894279
HLI	rs104894279
Exac	rs104894279
Gnomad	rs104894279
Varsome	rs104894279
LitVar	rs104894279
Map	rs104894279
PheGenI	rs104894279
Biobank	rs104894279
1000 genomes	rs104894279
hgdp	rs104894279
ensembl	rs104894279
geneview	rs104894279
scholar	rs104894279
google	rs104894279
pharmgkb	rs104894279
gwascentral	rs104894279
openSNP	rs104894279
23andMe	rs104894279
SNPshot	rs104894279
SNPdbe	rs104894279
MSV3d	rs104894279
GWAS Ctlg	rs104894279

Max Magnitude

0

OMIM	612719
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894279(G;G)
Alt	rs104894279(G;G)
Reference	Rs104894279(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.112104187A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000512.4,