rs199475634

Orientation

minus

Stabilized

minus

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

Make rs199475634(C;G)

Make rs199475634(G;G)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102894904

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475634
dbSNP (classic)	rs199475634
ClinGen	rs199475634
ebi	rs199475634
HLI	rs199475634
Exac	rs199475634
Gnomad	rs199475634
Varsome	rs199475634
LitVar	rs199475634
Map	rs199475634
PheGenI	rs199475634
Biobank	rs199475634
1000 genomes	rs199475634
hgdp	rs199475634
ensembl	rs199475634
geneview	rs199475634
scholar	rs199475634
google	rs199475634
pharmgkb	rs199475634
gwascentral	rs199475634
openSNP	rs199475634
23andMe	rs199475634
SNPshot	rs199475634
SNPdbe	rs199475634
MSV3d	rs199475634
GWAS Ctlg	rs199475634

Max Magnitude

0

ClinVar
Risk	rs199475634(A;A) rs199475634(G;G)
Alt	rs199475634(A;A) rs199475634(G;G)
Reference	Rs199475634(C;C)
Significance	Probable-Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103288682G>C; NC_000012.11:g.103288682G>T
CLNSRC	ClinVar DeBelle Laboratory for Biochemical Genetics
CLNACC	RCV000088860.1, RCV000106350.1,