rs199475587

Orientation

minus

Stabilized

minus

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

Make rs199475587(A;A)

Make rs199475587(A;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102866645

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475587
dbSNP (classic)	rs199475587
ClinGen	rs199475587
ebi	rs199475587
HLI	rs199475587
Exac	rs199475587
Gnomad	rs199475587
Varsome	rs199475587
LitVar	rs199475587
Map	rs199475587
PheGenI	rs199475587
Biobank	rs199475587
1000 genomes	rs199475587
hgdp	rs199475587
ensembl	rs199475587
geneview	rs199475587
scholar	rs199475587
google	rs199475587
pharmgkb	rs199475587
gwascentral	rs199475587
openSNP	rs199475587
23andMe	rs199475587
SNPshot	rs199475587
SNPdbe	rs199475587
MSV3d	rs199475587
GWAS Ctlg	rs199475587

Max Magnitude

3

ClinVar
Risk	rs199475587(A;A) rs199475587(C;C)
Alt	rs199475587(A;A) rs199475587(C;C)
Reference	Rs199475587(T;T)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103260423A>G; NC_000012.11:g.103260423A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000088933.1, RCV000088932.1,