rs199475690

Orientation

minus

Stabilized

minus

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

Make rs199475690(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102852849

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475690
dbSNP (classic)	rs199475690
ClinGen	rs199475690
ebi	rs199475690
HLI	rs199475690
Exac	rs199475690
Gnomad	rs199475690
Varsome	rs199475690
LitVar	rs199475690
Map	rs199475690
PheGenI	rs199475690
Biobank	rs199475690
1000 genomes	rs199475690
hgdp	rs199475690
ensembl	rs199475690
geneview	rs199475690
scholar	rs199475690
google	rs199475690
pharmgkb	rs199475690
gwascentral	rs199475690
openSNP	rs199475690
23andMe	rs199475690
SNPshot	rs199475690
SNPdbe	rs199475690
MSV3d	rs199475690
GWAS Ctlg	rs199475690

Max Magnitude

3

ClinVar
Risk	rs199475690(G;G)
Alt	rs199475690(G;G)
Reference	Rs199475690(A;A)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103246627T>C
CLNSRC
CLNACC	RCV000089104.1,