rs5030842

Orientation

minus

Stabilized

minus

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

Make rs5030842(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102894888

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030842
dbSNP (classic)	rs5030842
ClinGen	rs5030842
ebi	rs5030842
HLI	rs5030842
Exac	rs5030842
Gnomad	rs5030842
Varsome	rs5030842
LitVar	rs5030842
Map	rs5030842
PheGenI	rs5030842
Biobank	rs5030842
1000 genomes	rs5030842
hgdp	rs5030842
ensembl	rs5030842
geneview	rs5030842
scholar	rs5030842
google	rs5030842
pharmgkb	rs5030842
gwascentral	rs5030842
openSNP	rs5030842
23andMe	rs5030842
SNPshot	rs5030842
SNPdbe	rs5030842
MSV3d	rs5030842
GWAS Ctlg	rs5030842

Max Magnitude

3

ClinVar
Risk	rs5030842(C;C)
Alt	rs5030842(C;C)
Reference	Rs5030842(T;T)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103288666A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000088867.1,