rs5030845

Orientation

minus

Stabilized

minus

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

Make rs5030845(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

102855151

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030845
dbSNP (classic)	rs5030845
ClinGen	rs5030845
ebi	rs5030845
HLI	rs5030845
Exac	rs5030845
Gnomad	rs5030845
Varsome	rs5030845
LitVar	rs5030845
Map	rs5030845
PheGenI	rs5030845
Biobank	rs5030845
1000 genomes	rs5030845
hgdp	rs5030845
ensembl	rs5030845
geneview	rs5030845
scholar	rs5030845
google	rs5030845
pharmgkb	rs5030845
gwascentral	rs5030845
openSNP	rs5030845
23andMe	rs5030845
SNPshot	rs5030845
SNPdbe	rs5030845
MSV3d	rs5030845
GWAS Ctlg	rs5030845

Max Magnitude

3

ClinVar
Risk	rs5030845(C;C)
Alt	rs5030845(C;C)
Reference	Rs5030845(T;T)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103248929A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000089037.1, RCV000190611.1,