rs199475645

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 rs199475645(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102866607

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475645
dbSNP (classic)	rs199475645
ClinGen	rs199475645
ebi	rs199475645
HLI	rs199475645
Exac	rs199475645
Gnomad	rs199475645
Varsome	rs199475645
LitVar	rs199475645
Map	rs199475645
PheGenI	rs199475645
Biobank	rs199475645
1000 genomes	rs199475645
hgdp	rs199475645
ensembl	rs199475645
geneview	rs199475645
scholar	rs199475645
google	rs199475645
pharmgkb	rs199475645
gwascentral	rs199475645
openSNP	rs199475645
23andMe	rs199475645
SNPshot	rs199475645
SNPdbe	rs199475645
MSV3d	rs199475645
GWAS Ctlg	rs199475645

Max Magnitude

3

ClinVar
Risk	rs199475645(A;A) rs199475645(G;G)
Alt	rs199475645(A;A) rs199475645(G;G)
Reference	Rs199475645(C;C)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103260385G>C; NC_000012.11:g.103260385G>T
CLNSRC
CLNACC	RCV000410899.1, RCV000088950.1,