rs5030841

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	6	Phenylketonuria
(C;T)	3	Carrier of a phenylketonuria mutation
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

12

Position

102912816

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030841
dbSNP (classic)	rs5030841
ClinGen	rs5030841
ebi	rs5030841
HLI	rs5030841
Exac	rs5030841
Gnomad	rs5030841
Varsome	rs5030841
LitVar	rs5030841
Map	rs5030841
PheGenI	rs5030841
Biobank	rs5030841
1000 genomes	rs5030841
hgdp	rs5030841
ensembl	rs5030841
geneview	rs5030841
scholar	rs5030841
google	rs5030841
pharmgkb	rs5030841
gwascentral	rs5030841
openSNP	rs5030841
23andMe	rs5030841
SNPshot	rs5030841
SNPdbe	rs5030841
MSV3d	rs5030841
GWAS Ctlg	rs5030841

Max Magnitude

6

c.143T>C (p.Leu48Ser or L48S)

OMIM	612349
Desc
Variant	0034
Related	also

ClinVar
Risk	Rs5030841(C;C)
Alt	Rs5030841(C;C)
Reference	Rs5030841(T;T)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103306594A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000639.6, RCV000078511.6,