rs202183605

Orientation

plus

Stabilized

plus

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

Make rs202183605(C;G)

Make rs202183605(G;G)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102844432

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs202183605
dbSNP (classic)	rs202183605
ClinGen	rs202183605
ebi	rs202183605
HLI	rs202183605
Exac	rs202183605
Gnomad	rs202183605
Varsome	rs202183605
LitVar	rs202183605
Map	rs202183605
PheGenI	rs202183605
Biobank	rs202183605
1000 genomes	rs202183605
hgdp	rs202183605
ensembl	rs202183605
geneview	rs202183605
scholar	rs202183605
google	rs202183605
pharmgkb	rs202183605
gwascentral	rs202183605
openSNP	rs202183605
23andMe	rs202183605
SNPshot	rs202183605
SNPdbe	rs202183605
MSV3d	rs202183605
GWAS Ctlg	rs202183605

Max Magnitude

3

ClinVar
Risk	rs202183605(G;G) rs202183605(T;T)
Alt	rs202183605(G;G) rs202183605(T;T)
Reference	Rs202183605(C;C)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	0
HGVS	NC_000012.11:g.103238210C>T
CLNSRC	ClinVar
CLNACC	RCV000106379.1,