rs104894274

Orientation

plus

Stabilized

plus

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

Make rs104894274(C;T)

Make rs104894274(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

112226489

Gene

PTS

is a	snp
is	mentioned by
dbSNP	rs104894274
dbSNP (classic)	rs104894274
ClinGen	rs104894274
ebi	rs104894274
HLI	rs104894274
Exac	rs104894274
Gnomad	rs104894274
Varsome	rs104894274
LitVar	rs104894274
Map	rs104894274
PheGenI	rs104894274
Biobank	rs104894274
1000 genomes	rs104894274
hgdp	rs104894274
ensembl	rs104894274
geneview	rs104894274
scholar	rs104894274
google	rs104894274
pharmgkb	rs104894274
gwascentral	rs104894274
openSNP	rs104894274
23andMe	rs104894274
SNPshot	rs104894274
SNPdbe	rs104894274
MSV3d	rs104894274
GWAS Ctlg	rs104894274

Max Magnitude

0

OMIM	612719
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894274(T;T)
Alt	rs104894274(T;T)
Reference	Rs104894274(C;C)
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.112097212C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000506.2,