rs140945592

Orientation

plus

Stabilized

plus

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

Make rs140945592(C;T)

Make rs140945592(T;T)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102894918

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs140945592
dbSNP (classic)	rs140945592
ClinGen	rs140945592
ebi	rs140945592
HLI	rs140945592
Exac	rs140945592
Gnomad	rs140945592
Varsome	rs140945592
LitVar	rs140945592
Map	rs140945592
PheGenI	rs140945592
Biobank	rs140945592
1000 genomes	rs140945592
hgdp	rs140945592
ensembl	rs140945592
geneview	rs140945592
scholar	rs140945592
google	rs140945592
pharmgkb	rs140945592
gwascentral	rs140945592
openSNP	rs140945592
23andMe	rs140945592
SNPshot	rs140945592
SNPdbe	rs140945592
MSV3d	rs140945592
GWAS Ctlg	rs140945592

Max Magnitude

3

ClinVar
Risk	rs140945592(A;A) rs140945592(T;T)
Alt	rs140945592(A;A) rs140945592(T;T)
Reference	Rs140945592(C;C)
Significance	Probable-Pathogenic
Disease	Phenylketonuria not specified
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not specified
Reversed	0
HGVS	NC_000012.11:g.103288696C>A; NC_000012.11:g.103288696C>T
CLNSRC	HGMD
CLNACC	RCV000106349.1, RCV000078515.5,