rs5030854

Orientation

minus

Stabilized

minus

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

Make rs5030854(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

102843769

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030854
dbSNP (classic)	rs5030854
ClinGen	rs5030854
ebi	rs5030854
HLI	rs5030854
Exac	rs5030854
Gnomad	rs5030854
Varsome	rs5030854
LitVar	rs5030854
Map	rs5030854
PheGenI	rs5030854
Biobank	rs5030854
1000 genomes	rs5030854
hgdp	rs5030854
ensembl	rs5030854
geneview	rs5030854
scholar	rs5030854
google	rs5030854
pharmgkb	rs5030854
gwascentral	rs5030854
openSNP	rs5030854
23andMe	rs5030854
SNPshot	rs5030854
SNPdbe	rs5030854
MSV3d	rs5030854
GWAS Ctlg	rs5030854

Max Magnitude

3

OMIM	612349
Desc
Variant	0052
Related	also

ClinVar
Risk	rs5030854(G;G)
Alt	rs5030854(G;G)
Reference	Rs5030854(C;C)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103237547G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000658.3, RCV000088747.1,