rs199475589

Orientation

minus

Stabilized

minus

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

Make rs199475589(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102855169

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475589
dbSNP (classic)	rs199475589
ClinGen	rs199475589
ebi	rs199475589
HLI	rs199475589
Exac	rs199475589
Gnomad	rs199475589
Varsome	rs199475589
LitVar	rs199475589
Map	rs199475589
PheGenI	rs199475589
Biobank	rs199475589
1000 genomes	rs199475589
hgdp	rs199475589
ensembl	rs199475589
geneview	rs199475589
scholar	rs199475589
google	rs199475589
pharmgkb	rs199475589
gwascentral	rs199475589
openSNP	rs199475589
23andMe	rs199475589
SNPshot	rs199475589
SNPdbe	rs199475589
MSV3d	rs199475589
GWAS Ctlg	rs199475589

Max Magnitude

3

ClinVar
Risk	rs199475589(A;A) rs199475589(G;G)
Alt	rs199475589(A;A) rs199475589(G;G)
Reference	Rs199475589(C;C)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103248947G>C; NC_000012.11:g.103248947G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000089031.1, RCV000089030.1,