rs62517178

Orientation

minus

Stabilized

minus

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

Make rs62517178(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102852942

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62517178
dbSNP (classic)	rs62517178
ClinGen	rs62517178
ebi	rs62517178
HLI	rs62517178
Exac	rs62517178
Gnomad	rs62517178
Varsome	rs62517178
LitVar	rs62517178
Map	rs62517178
PheGenI	rs62517178
Biobank	rs62517178
1000 genomes	rs62517178
hgdp	rs62517178
ensembl	rs62517178
geneview	rs62517178
scholar	rs62517178
google	rs62517178
pharmgkb	rs62517178
gwascentral	rs62517178
openSNP	rs62517178
23andMe	rs62517178
SNPshot	rs62517178
SNPdbe	rs62517178
MSV3d	rs62517178
GWAS Ctlg	rs62517178

Max Magnitude

3

ClinVar
Risk	rs62517178(A;A)
Alt	rs62517178(A;A)
Reference	Rs62517178(G;G)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103246720C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000089048.1,