rs118203925

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a non-phenylketonuria hyperphenylalaninemia allele
(T;T)	5.9	Non-phenylketonuria hyperphenylalaninemia genotype

Reference

GRCh38 38.1/141

Chromosome

12

Position

102912819

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs118203925
dbSNP (classic)	rs118203925
ClinGen	rs118203925
ebi	rs118203925
HLI	rs118203925
Exac	rs118203925
Gnomad	rs118203925
Varsome	rs118203925
LitVar	rs118203925
Map	rs118203925
PheGenI	rs118203925
Biobank	rs118203925
1000 genomes	rs118203925
hgdp	rs118203925
ensembl	rs118203925
geneview	rs118203925
scholar	rs118203925
google	rs118203925
pharmgkb	rs118203925
gwascentral	rs118203925
openSNP	rs118203925
23andMe	rs118203925
SNPshot	rs118203925
SNPdbe	rs118203925
MSV3d	rs118203925
GWAS Ctlg	rs118203925

Max Magnitude

5.9

OMIM	612349
Desc
Variant	0056
Related	also

ClinVar
Risk	rs118203925(A;A) Rs118203925(T;T)
Alt	rs118203925(A;A) Rs118203925(T;T)
Reference	Rs118203925(C;C)
Significance	Pathogenic
Disease	Hyperphenylalaninemia not provided
Variation	info
Gene	PAH
CLNDBN	Hyperphenylalaninemia, non-pku not provided
Reversed	1
HGVS	NC_000012.11:g.103306597G>A; NC_000012.11:g.103306597G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000662.3, RCV000088839.1, RCV000088838.1,