rs1799970

Orientation

minus

Stabilized

minus

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

Make rs1799970(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

102840398

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs1799970
dbSNP (classic)	rs1799970
ClinGen	rs1799970
ebi	rs1799970
HLI	rs1799970
Exac	rs1799970
Gnomad	rs1799970
Varsome	rs1799970
LitVar	rs1799970
Map	rs1799970
PheGenI	rs1799970
Biobank	rs1799970
1000 genomes	rs1799970
hgdp	rs1799970
ensembl	rs1799970
geneview	rs1799970
scholar	rs1799970
google	rs1799970
pharmgkb	rs1799970
gwascentral	rs1799970
openSNP	rs1799970
23andMe	rs1799970
SNPshot	rs1799970
SNPdbe	rs1799970
MSV3d	rs1799970
GWAS Ctlg	rs1799970

Max Magnitude

3

ClinVar
Risk	rs1799970(C;C)
Alt	rs1799970(C;C)
Reference	Rs1799970(T;T)
Significance	Probable-Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103234176A>G
CLNSRC
CLNACC	RCV000088827.1, RCV000169029.1,