rs199475612

Orientation

minus

Stabilized

minus

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

Make rs199475612(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102866634

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475612
dbSNP (classic)	rs199475612
ClinGen	rs199475612
ebi	rs199475612
HLI	rs199475612
Exac	rs199475612
Gnomad	rs199475612
Varsome	rs199475612
LitVar	rs199475612
Map	rs199475612
PheGenI	rs199475612
Biobank	rs199475612
1000 genomes	rs199475612
hgdp	rs199475612
ensembl	rs199475612
geneview	rs199475612
scholar	rs199475612
google	rs199475612
pharmgkb	rs199475612
gwascentral	rs199475612
openSNP	rs199475612
23andMe	rs199475612
SNPshot	rs199475612
SNPdbe	rs199475612
MSV3d	rs199475612
GWAS Ctlg	rs199475612

Max Magnitude

3

ClinVar
Risk	rs199475612(C;C) rs199475612(G;G)
Alt	rs199475612(C;C) rs199475612(G;G)
Reference	Rs199475612(A;A)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103260412T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000088940.1,