rs199475684

Orientation

minus

Stabilized

minus

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

Make rs199475684(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102894734

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475684
dbSNP (classic)	rs199475684
ClinGen	rs199475684
ebi	rs199475684
HLI	rs199475684
Exac	rs199475684
Gnomad	rs199475684
Varsome	rs199475684
LitVar	rs199475684
Map	rs199475684
PheGenI	rs199475684
Biobank	rs199475684
1000 genomes	rs199475684
hgdp	rs199475684
ensembl	rs199475684
geneview	rs199475684
scholar	rs199475684
google	rs199475684
pharmgkb	rs199475684
gwascentral	rs199475684
openSNP	rs199475684
23andMe	rs199475684
SNPshot	rs199475684
SNPdbe	rs199475684
MSV3d	rs199475684
GWAS Ctlg	rs199475684

Max Magnitude

3

ClinVar
Risk	rs199475684(A;A)
Alt	rs199475684(A;A)
Reference	Rs199475684(G;G)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103288512C>T
CLNSRC
CLNACC	RCV000088900.1,