rs118203923

Orientation

minus

Stabilized

minus

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

Make rs118203923(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

102852926

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs118203923
dbSNP (classic)	rs118203923
ClinGen	rs118203923
ebi	rs118203923
HLI	rs118203923
Exac	rs118203923
Gnomad	rs118203923
Varsome	rs118203923
LitVar	rs118203923
Map	rs118203923
PheGenI	rs118203923
Biobank	rs118203923
1000 genomes	rs118203923
hgdp	rs118203923
ensembl	rs118203923
geneview	rs118203923
scholar	rs118203923
google	rs118203923
pharmgkb	rs118203923
gwascentral	rs118203923
openSNP	rs118203923
23andMe	rs118203923
SNPshot	rs118203923
SNPdbe	rs118203923
MSV3d	rs118203923
GWAS Ctlg	rs118203923

Max Magnitude

3

OMIM	612349
Desc
Variant	0047
Related	also

ClinVar
Risk	rs118203923(T;T)
Alt	rs118203923(T;T)
Reference	Rs118203923(C;C)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103246704G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000652.4, RCV000089061.1,