rs199475692

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs199475692(A;G)

Make rs199475692(G;G)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102852845

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475692
dbSNP (classic)	rs199475692
ClinGen	rs199475692
ebi	rs199475692
HLI	rs199475692
Exac	rs199475692
Gnomad	rs199475692
Varsome	rs199475692
LitVar	rs199475692
Map	rs199475692
PheGenI	rs199475692
Biobank	rs199475692
1000 genomes	rs199475692
hgdp	rs199475692
ensembl	rs199475692
geneview	rs199475692
scholar	rs199475692
google	rs199475692
pharmgkb	rs199475692
gwascentral	rs199475692
openSNP	rs199475692
23andMe	rs199475692
SNPshot	rs199475692
SNPdbe	rs199475692
MSV3d	rs199475692
GWAS Ctlg	rs199475692

Max Magnitude

0

ClinVar
Risk	rs199475692(G;G) rs199475692(T;T)
Alt	rs199475692(G;G) rs199475692(T;T)
Reference	Rs199475692(A;A)
Significance	Probable-Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103246623T>A; NC_000012.11:g.103246623T>C
CLNSRC	ClinVar DeBelle Laboratory for Biochemical Genetics
CLNACC	RCV000106368.1, RCV000089109.3,