rs786204457

Orientation

minus

Stabilized

minus

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

Make rs786204457(AA;AA)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

102912790

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs786204457
dbSNP (classic)	rs786204457
ClinGen	rs786204457
ebi	rs786204457
HLI	rs786204457
Exac	rs786204457
Gnomad	rs786204457
Varsome	rs786204457
LitVar	rs786204457
Map	rs786204457
PheGenI	rs786204457
Biobank	rs786204457
1000 genomes	rs786204457
hgdp	rs786204457
ensembl	rs786204457
geneview	rs786204457
scholar	rs786204457
google	rs786204457
pharmgkb	rs786204457
gwascentral	rs786204457
openSNP	rs786204457
23andMe	rs786204457
SNPshot	rs786204457
SNPdbe	rs786204457
MSV3d	rs786204457
GWAS Ctlg	rs786204457

Max Magnitude

3

ClinVar
Risk	rs786204457(AA;AA)
Alt	rs786204457(AA;AA)
Reference	Rs786204457(GG;GG)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103306568_103306569delCCinsTT
CLNSRC
CLNACC	RCV000169094.1,