rs199475565

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;TTC)	3	Carrier of a phenylketonuria mutation
(TTC;TTC)	0	common/normal

Make rs199475565(-;-)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102912842

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475565
dbSNP (classic)	rs199475565
ClinGen	rs199475565
ebi	rs199475565
HLI	rs199475565
Exac	rs199475565
Gnomad	rs199475565
Varsome	rs199475565
LitVar	rs199475565
Map	rs199475565
PheGenI	rs199475565
Biobank	rs199475565
1000 genomes	rs199475565
hgdp	rs199475565
ensembl	rs199475565
geneview	rs199475565
scholar	rs199475565
google	rs199475565
pharmgkb	rs199475565
gwascentral	rs199475565
openSNP	rs199475565
23andMe	rs199475565
SNPshot	rs199475565
SNPdbe	rs199475565
MSV3d	rs199475565
GWAS Ctlg	rs199475565

Merged from

Rs762462102

Max Magnitude

3

aka c.116_118delTCT (p.Phe39del)

ClinVar
Risk	rs199475565(TCT;TCT) rs199475565(-;-)
Alt	rs199475565(TCT;TCT) rs199475565(-;-)
Reference	Rs199475565(TTC;TTC)
Significance	Other
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103306619_103306621delAGA
CLNSRC
CLNACC	RCV000169302.2, RCV000186077.2,