rs199475655

Orientation

minus

Stabilized

minus

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

Make rs199475655(C;G)

Make rs199475655(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

102866597

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475655
dbSNP (classic)	rs199475655
ClinGen	rs199475655
ebi	rs199475655
HLI	rs199475655
Exac	rs199475655
Gnomad	rs199475655
Varsome	rs199475655
LitVar	rs199475655
Map	rs199475655
PheGenI	rs199475655
Biobank	rs199475655
1000 genomes	rs199475655
hgdp	rs199475655
ensembl	rs199475655
geneview	rs199475655
scholar	rs199475655
google	rs199475655
pharmgkb	rs199475655
gwascentral	rs199475655
openSNP	rs199475655
23andMe	rs199475655
SNPshot	rs199475655
SNPdbe	rs199475655
MSV3d	rs199475655
GWAS Ctlg	rs199475655

Max Magnitude

0

ClinVar
Risk	rs199475655(G;G)
Alt	rs199475655(G;G)
Reference	Rs199475655(C;C)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103260375G>C
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078524.5, RCV000150088.3,