rs199475659

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs199475659(A;A)

Make rs199475659(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

102840414

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475659
dbSNP (classic)	rs199475659
ClinGen	rs199475659
ebi	rs199475659
HLI	rs199475659
Exac	rs199475659
Gnomad	rs199475659
Varsome	rs199475659
LitVar	rs199475659
Map	rs199475659
PheGenI	rs199475659
Biobank	rs199475659
1000 genomes	rs199475659
hgdp	rs199475659
ensembl	rs199475659
geneview	rs199475659
scholar	rs199475659
google	rs199475659
pharmgkb	rs199475659
gwascentral	rs199475659
openSNP	rs199475659
23andMe	rs199475659
SNPshot	rs199475659
SNPdbe	rs199475659
MSV3d	rs199475659
GWAS Ctlg	rs199475659

Max Magnitude

0

ClinVar
Risk	rs199475659(A;A)
Alt	rs199475659(A;A)
Reference	Rs199475659(C;C)
Significance	Probable-Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103234192G>T
CLNSRC
CLNACC	RCV000088825.1, RCV000169393.1,