rs199475626

Orientation

minus

Stabilized

minus

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

Make rs199475626(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102866612

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475626
dbSNP (classic)	rs199475626
ClinGen	rs199475626
ebi	rs199475626
HLI	rs199475626
Exac	rs199475626
Gnomad	rs199475626
Varsome	rs199475626
LitVar	rs199475626
Map	rs199475626
PheGenI	rs199475626
Biobank	rs199475626
1000 genomes	rs199475626
hgdp	rs199475626
ensembl	rs199475626
geneview	rs199475626
scholar	rs199475626
google	rs199475626
pharmgkb	rs199475626
gwascentral	rs199475626
openSNP	rs199475626
23andMe	rs199475626
SNPshot	rs199475626
SNPdbe	rs199475626
MSV3d	rs199475626
GWAS Ctlg	rs199475626

Max Magnitude

3

ClinVar
Risk	rs199475626(A;A) rs199475626(C;C)
Alt	rs199475626(A;A) rs199475626(C;C)
Reference	Rs199475626(G;G)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103260390C>G; NC_000012.11:g.103260390C>T
CLNSRC
CLNACC	RCV000088949.1, RCV000088948.1,