rs199475579

Orientation

minus

Stabilized

minus

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

Make rs199475579(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

102852917

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475579
dbSNP (classic)	rs199475579
ClinGen	rs199475579
ebi	rs199475579
HLI	rs199475579
Exac	rs199475579
Gnomad	rs199475579
Varsome	rs199475579
LitVar	rs199475579
Map	rs199475579
PheGenI	rs199475579
Biobank	rs199475579
1000 genomes	rs199475579
hgdp	rs199475579
ensembl	rs199475579
geneview	rs199475579
scholar	rs199475579
google	rs199475579
pharmgkb	rs199475579
gwascentral	rs199475579
openSNP	rs199475579
23andMe	rs199475579
SNPshot	rs199475579
SNPdbe	rs199475579
MSV3d	rs199475579
GWAS Ctlg	rs199475579

Max Magnitude

3

ClinVar
Risk	rs199475579(A;A) rs199475579(T;T)
Alt	rs199475579(A;A) rs199475579(T;T)
Reference	Rs199475579(G;G)
Significance	Probable-Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103246695C>A; NC_000012.11:g.103246695C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000089073.1, RCV000169396.1, RCV000089072.1,