rs778154939

Orientation

plus

Stabilized

plus

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

Make rs778154939(A;A)

Make rs778154939(A;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102852857

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs778154939
dbSNP (classic)	rs778154939
ClinGen	rs778154939
ebi	rs778154939
HLI	rs778154939
Exac	rs778154939
Gnomad	rs778154939
Varsome	rs778154939
LitVar	rs778154939
Map	rs778154939
PheGenI	rs778154939
Biobank	rs778154939
1000 genomes	rs778154939
hgdp	rs778154939
ensembl	rs778154939
geneview	rs778154939
scholar	rs778154939
google	rs778154939
pharmgkb	rs778154939
gwascentral	rs778154939
openSNP	rs778154939
23andMe	rs778154939
SNPshot	rs778154939
SNPdbe	rs778154939
MSV3d	rs778154939
GWAS Ctlg	rs778154939

Max Magnitude

3

ClinVar
Risk	rs778154939(A;A)
Alt	rs778154939(A;A)
Reference	Rs778154939(T;T)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	0
HGVS	NC_000012.11:g.103246635T>A
CLNSRC
CLNACC	RCV000210763.1,