rs140175796

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;T)	3	Carrier of a phenylketonuria mutation
(T;T)	0	common in clinvar

Make rs140175796(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

102877469

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs140175796
dbSNP (classic)	rs140175796
ClinGen	rs140175796
ebi	rs140175796
HLI	rs140175796
Exac	rs140175796
Gnomad	rs140175796
Varsome	rs140175796
LitVar	rs140175796
Map	rs140175796
PheGenI	rs140175796
Biobank	rs140175796
1000 genomes	rs140175796
hgdp	rs140175796
ensembl	rs140175796
geneview	rs140175796
scholar	rs140175796
google	rs140175796
pharmgkb	rs140175796
gwascentral	rs140175796
openSNP	rs140175796
23andMe	rs140175796
SNPshot	rs140175796
SNPdbe	rs140175796
MSV3d	rs140175796
GWAS Ctlg	rs140175796

Max Magnitude

3

ClinVar
Risk	rs140175796(A;A)
Alt	rs140175796(A;A)
Reference	Rs140175796(T;T)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	0
HGVS	NC_000012.11:g.103271247T>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000088915.1,