rs62508698

Orientation

minus

Stabilized

minus

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

Make rs62508698(A;A)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102852819

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62508698
dbSNP (classic)	rs62508698
ClinGen	rs62508698
ebi	rs62508698
HLI	rs62508698
Exac	rs62508698
Gnomad	rs62508698
Varsome	rs62508698
LitVar	rs62508698
Map	rs62508698
PheGenI	rs62508698
Biobank	rs62508698
1000 genomes	rs62508698
hgdp	rs62508698
ensembl	rs62508698
geneview	rs62508698
scholar	rs62508698
google	rs62508698
pharmgkb	rs62508698
gwascentral	rs62508698
openSNP	rs62508698
23andMe	rs62508698
SNPshot	rs62508698
SNPdbe	rs62508698
MSV3d	rs62508698
GWAS Ctlg	rs62508698

Max Magnitude

3

OMIM	612349
Desc
Variant	0004
Related	also

ClinVar
Risk	rs62508698(A;A) rs62508698(C;C)
Alt	rs62508698(A;A) rs62508698(C;C)
Reference	Rs62508698(G;G)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103246597C>G; NC_000012.11:g.103246597C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000089125.1, RCV000000610.7, RCV000078532.6,