rs62516101

Orientation

minus

Stabilized

minus

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

Make rs62516101(A;A)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102843683

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62516101
dbSNP (classic)	rs62516101
ClinGen	rs62516101
ebi	rs62516101
HLI	rs62516101
Exac	rs62516101
Gnomad	rs62516101
Varsome	rs62516101
LitVar	rs62516101
Map	rs62516101
PheGenI	rs62516101
Biobank	rs62516101
1000 genomes	rs62516101
hgdp	rs62516101
ensembl	rs62516101
geneview	rs62516101
scholar	rs62516101
google	rs62516101
pharmgkb	rs62516101
gwascentral	rs62516101
openSNP	rs62516101
23andMe	rs62516101
SNPshot	rs62516101
SNPdbe	rs62516101
MSV3d	rs62516101
GWAS Ctlg	rs62516101

Max Magnitude

3

aka c.1162G>A (p.Val388Met)

FTDNA & MyHeritage name: VG12S8220

OMIM	612349
Desc
Variant	0045
Related	also

ClinVar
Risk	rs62516101(A;A) rs62516101(C;C)
Alt	rs62516101(A;A) rs62516101(C;C)
Reference	Rs62516101(G;G)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103237461C>G; NC_000012.11:g.103237461C>T
CLNSRC	UniProtKB (protein) HGMD OMIM Allelic Variant
CLNACC	RCV000088775.1, RCV000000650.7, RCV000088774.3,