rs62514953

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a phenylketonuria mutation
(T;T)	6	Phenyketonuria

Reference

GRCh38 38.1/141

Chromosome

12

Position

102852839

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62514953
dbSNP (classic)	rs62514953
ClinGen	rs62514953
ebi	rs62514953
HLI	rs62514953
Exac	rs62514953
Gnomad	rs62514953
Varsome	rs62514953
LitVar	rs62514953
Map	rs62514953
PheGenI	rs62514953
Biobank	rs62514953
1000 genomes	rs62514953
hgdp	rs62514953
ensembl	rs62514953
geneview	rs62514953
scholar	rs62514953
google	rs62514953
pharmgkb	rs62514953
gwascentral	rs62514953
openSNP	rs62514953
23andMe	rs62514953
SNPshot	rs62514953
SNPdbe	rs62514953
MSV3d	rs62514953
GWAS Ctlg	rs62514953

Max Magnitude

6

OMIM	612349
Desc
Variant	0023
Related	also

ClinVar
Risk	Rs62514953(T;T)
Alt	Rs62514953(T;T)
Reference	Rs62514953(C;C)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103246617G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000629.5, RCV000089111.1,