rs62642941

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	6	Phenylketonuria
(-;T)	3	Carrier of a phenylketonuria mutation
(D;D)	0	common/normal UNLESS DATA IS NOT FROM 23andME
(D;I)	3	carrier of a Phenylketonuria allele
(I;I)	6	Phenylketonuria - ONLY IF DATA IS FROM 23andMe
(T;T)	0	common in clinvar

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

102843716

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62642941
dbSNP (classic)	rs62642941
ClinGen	rs62642941
ebi	rs62642941
HLI	rs62642941
Exac	rs62642941
Gnomad	rs62642941
Varsome	rs62642941
LitVar	rs62642941
Map	rs62642941
PheGenI	rs62642941
Biobank	rs62642941
1000 genomes	rs62642941
hgdp	rs62642941
ensembl	rs62642941
geneview	rs62642941
scholar	rs62642941
google	rs62642941
pharmgkb	rs62642941
gwascentral	rs62642941
openSNP	rs62642941
23andMe	rs62642941
SNPshot	rs62642941
SNPdbe	rs62642941
MSV3d	rs62642941
GWAS Ctlg	rs62642941

Max Magnitude

6

ClinVar
Risk	Rs62642941(-;-)
Alt	Rs62642941(-;-)
Reference	Rs62642941(T;T)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103237494delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000666.4, RCV000088766.1,