rs796064501

Orientation

minus

Stabilized

minus

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

Make rs796064501(A;A)

Make rs796064501(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

102844376

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs796064501
dbSNP (classic)	rs796064501
ClinGen	rs796064501
ebi	rs796064501
HLI	rs796064501
Exac	rs796064501
Gnomad	rs796064501
Varsome	rs796064501
LitVar	rs796064501
Map	rs796064501
PheGenI	rs796064501
Biobank	rs796064501
1000 genomes	rs796064501
hgdp	rs796064501
ensembl	rs796064501
geneview	rs796064501
scholar	rs796064501
google	rs796064501
pharmgkb	rs796064501
gwascentral	rs796064501
openSNP	rs796064501
23andMe	rs796064501
SNPshot	rs796064501
SNPdbe	rs796064501
MSV3d	rs796064501
GWAS Ctlg	rs796064501

Max Magnitude

0

ClinVar
Risk	rs796064501(A;A)
Alt	rs796064501(A;A)
Reference	Rs796064501(C;C)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103238154G>T
CLNSRC
CLNACC	RCV000190375.1,