rs62516092

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	carrier of Phenylketonuria allele
(G;G)	6	Phenyketonuria

Reference

GRCh38 38.1/141

Chromosome

12

Position

102844359

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62516092
dbSNP (classic)	rs62516092
ClinGen	rs62516092
ebi	rs62516092
HLI	rs62516092
Exac	rs62516092
Gnomad	rs62516092
Varsome	rs62516092
LitVar	rs62516092
Map	rs62516092
PheGenI	rs62516092
Biobank	rs62516092
1000 genomes	rs62516092
hgdp	rs62516092
ensembl	rs62516092
geneview	rs62516092
scholar	rs62516092
google	rs62516092
pharmgkb	rs62516092
gwascentral	rs62516092
openSNP	rs62516092
23andMe	rs62516092
SNPshot	rs62516092
SNPdbe	rs62516092
MSV3d	rs62516092
GWAS Ctlg	rs62516092

Max Magnitude

6

ClinVar
Risk	Rs62516092(G;G)
Alt	Rs62516092(G;G)
Reference	Rs62516092(C;C)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103238137G>C
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078498.3, RCV000150080.3,