rs5030847

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

12

Position

102852903

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030847
dbSNP (classic)	rs5030847
ClinGen	rs5030847
ebi	rs5030847
HLI	rs5030847
Exac	rs5030847
Gnomad	rs5030847
Varsome	rs5030847
LitVar	rs5030847
Map	rs5030847
PheGenI	rs5030847
Biobank	rs5030847
1000 genomes	rs5030847
hgdp	rs5030847
ensembl	rs5030847
geneview	rs5030847
scholar	rs5030847
google	rs5030847
pharmgkb	rs5030847
gwascentral	rs5030847
openSNP	rs5030847
23andMe	rs5030847
SNPshot	rs5030847
SNPdbe	rs5030847
MSV3d	rs5030847
GWAS Ctlg	rs5030847

Max Magnitude

6

OMIM	612349
Desc
Variant	0007
Related	also

ClinVar
Risk	rs5030847(G;G) Rs5030847(T;T)
Alt	rs5030847(G;G) Rs5030847(T;T)
Reference	Rs5030847(C;C)
Significance	Other
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103246681G>A; NC_000012.11:g.103246681G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000614.7, RCV000089079.3, RCV000201954.1, RCV000089078.1,