rs1801147

Orientation

minus

Stabilized

minus

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

Make rs1801147(C;T)

Make rs1801147(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102855233

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs1801147
dbSNP (classic)	rs1801147
ClinGen	rs1801147
ebi	rs1801147
HLI	rs1801147
Exac	rs1801147
Gnomad	rs1801147
Varsome	rs1801147
LitVar	rs1801147
Map	rs1801147
PheGenI	rs1801147
Biobank	rs1801147
1000 genomes	rs1801147
hgdp	rs1801147
ensembl	rs1801147
geneview	rs1801147
scholar	rs1801147
google	rs1801147
pharmgkb	rs1801147
gwascentral	rs1801147
openSNP	rs1801147
23andMe	rs1801147
SNPshot	rs1801147
SNPdbe	rs1801147
MSV3d	rs1801147
GWAS Ctlg	rs1801147

Max Magnitude

3

ClinVar
Risk	rs1801147(G;G) rs1801147(T;T)
Alt	rs1801147(G;G) rs1801147(T;T)
Reference	Rs1801147(C;C)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103249011G>A; NC_000012.11:g.103249011G>C
CLNSRC
CLNACC	RCV000089005.1, RCV000089004.1,