rs62642094

Orientation

minus

Stabilized

minus

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

Make rs62642094(-;-)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102894877

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62642094
dbSNP (classic)	rs62642094
ClinGen	rs62642094
ebi	rs62642094
HLI	rs62642094
Exac	rs62642094
Gnomad	rs62642094
Varsome	rs62642094
LitVar	rs62642094
Map	rs62642094
PheGenI	rs62642094
Biobank	rs62642094
1000 genomes	rs62642094
hgdp	rs62642094
ensembl	rs62642094
geneview	rs62642094
scholar	rs62642094
google	rs62642094
pharmgkb	rs62642094
gwascentral	rs62642094
openSNP	rs62642094
23andMe	rs62642094
SNPshot	rs62642094
SNPdbe	rs62642094
MSV3d	rs62642094
GWAS Ctlg	rs62642094

Merged from

Rs199475687

Max Magnitude

3

ClinVar
Risk	rs62642094(TTC;TTC) rs62642094(CTT;CTT) rs62642094(-;-)
Alt	rs62642094(TTC;TTC) rs62642094(CTT;CTT) rs62642094(-;-)
Reference	Rs62642094(TCT;TCT)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103288655_103288657delAGA
CLNSRC
CLNACC	RCV000088875.2, RCV000411181.1,