rs62514936

Orientation

minus

Stabilized

minus

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

Make rs62514936(-;-)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102855178

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62514936
dbSNP (classic)	rs62514936
ClinGen	rs62514936
ebi	rs62514936
HLI	rs62514936
Exac	rs62514936
Gnomad	rs62514936
Varsome	rs62514936
LitVar	rs62514936
Map	rs62514936
PheGenI	rs62514936
Biobank	rs62514936
1000 genomes	rs62514936
hgdp	rs62514936
ensembl	rs62514936
geneview	rs62514936
scholar	rs62514936
google	rs62514936
pharmgkb	rs62514936
gwascentral	rs62514936
openSNP	rs62514936
23andMe	rs62514936
SNPshot	rs62514936
SNPdbe	rs62514936
MSV3d	rs62514936
GWAS Ctlg	rs62514936

Merged from

Rs759154440

Max Magnitude

3

ClinVar
Risk	Rs62514936(GA;GA) rs62514936(-;-)
Alt	Rs62514936(GA;GA) rs62514936(-;-)
Reference	Rs62514936(AG;AG)
Significance	Probable-Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103248955_103248956delTC
CLNSRC
CLNACC	RCV000089025.1, RCV000169088.1,