rs62516097

Orientation

minus

Stabilized

minus

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

Make rs62516097(-;-)

Make rs62516097(-;CTTCTCCCCCTGGAG)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102843741

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62516097
dbSNP (classic)	rs62516097
ClinGen	rs62516097
ebi	rs62516097
HLI	rs62516097
Exac	rs62516097
Gnomad	rs62516097
Varsome	rs62516097
LitVar	rs62516097
Map	rs62516097
PheGenI	rs62516097
Biobank	rs62516097
1000 genomes	rs62516097
hgdp	rs62516097
ensembl	rs62516097
geneview	rs62516097
scholar	rs62516097
google	rs62516097
pharmgkb	rs62516097
gwascentral	rs62516097
openSNP	rs62516097
23andMe	rs62516097
SNPshot	rs62516097
SNPdbe	rs62516097
MSV3d	rs62516097
GWAS Ctlg	rs62516097

Merged from

Rs786200862

Max Magnitude

3

ClinVar
Risk	Rs62516097(TCTCCCCCTGGAGCT;TCTCCCCCTGGAGCT) rs62516097(-;-)
Alt	Rs62516097(TCTCCCCCTGGAGCT;TCTCCCCCTGGAGCT) rs62516097(-;-)
Reference	Rs62516097(CTTCTCCCCCTGGAG;CTTCTCCCCCTGGAG)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103237517_103237531delAGCTCCAGGGGGAGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000651.3, RCV000088753.1,