rs62508727

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;TCA)	3	Carrier of a phenylketonuria mutation
(D;I)	3	miscalled by 23andMe, but otherwise indicates being a carrier of a phenylketonuria mutation
(I;I)	0
(TCA;TCA)	0	common in clinvar

Make rs62508727(-;-)

Reference

GRCh38 38.1/141

Chromosome

12

Position

102894801

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62508727
dbSNP (classic)	rs62508727
ClinGen	rs62508727
ebi	rs62508727
HLI	rs62508727
Exac	rs62508727
Gnomad	rs62508727
Varsome	rs62508727
LitVar	rs62508727
Map	rs62508727
PheGenI	rs62508727
Biobank	rs62508727
1000 genomes	rs62508727
hgdp	rs62508727
ensembl	rs62508727
geneview	rs62508727
scholar	rs62508727
google	rs62508727
pharmgkb	rs62508727
gwascentral	rs62508727
openSNP	rs62508727
23andMe	rs62508727
SNPshot	rs62508727
SNPdbe	rs62508727
MSV3d	rs62508727
GWAS Ctlg	rs62508727

Merged from

Rs62514904

Max Magnitude

3

rs62508727, also known as c.284_286delTCA and p.Ile95del, represents a mutation in the PAH (phenylketonuria) gene on chromosome 12.

ClinVar
Risk	rs62508727(ATC;ATC) rs62508727(-;-)
Alt	rs62508727(ATC;ATC) rs62508727(-;-)
Reference	Rs62508727(TCA;TCA)
Significance	Other
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103288579_103288581delTGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000635.4, RCV000078518.6,