rs62642930

Orientation

minus

Stabilized

minus

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

Make rs62642930(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

102852893

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62642930
dbSNP (classic)	rs62642930
ClinGen	rs62642930
ebi	rs62642930
HLI	rs62642930
Exac	rs62642930
Gnomad	rs62642930
Varsome	rs62642930
LitVar	rs62642930
Map	rs62642930
PheGenI	rs62642930
Biobank	rs62642930
1000 genomes	rs62642930
hgdp	rs62642930
ensembl	rs62642930
geneview	rs62642930
scholar	rs62642930
google	rs62642930
pharmgkb	rs62642930
gwascentral	rs62642930
openSNP	rs62642930
23andMe	rs62642930
SNPshot	rs62642930
SNPdbe	rs62642930
MSV3d	rs62642930
GWAS Ctlg	rs62642930

Max Magnitude

3

OMIM	612349
Desc
Variant	0026
Related	also

ClinVar
Risk	rs62642930(C;C)
Alt	rs62642930(C;C)
Reference	Rs62642930(T;T)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103246671A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000631.3, RCV000089083.1,