rs199475671

Orientation

minus

Stabilized

minus

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

Make rs199475671(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102855307

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475671
dbSNP (classic)	rs199475671
ClinGen	rs199475671
ebi	rs199475671
HLI	rs199475671
Exac	rs199475671
Gnomad	rs199475671
Varsome	rs199475671
LitVar	rs199475671
Map	rs199475671
PheGenI	rs199475671
Biobank	rs199475671
1000 genomes	rs199475671
hgdp	rs199475671
ensembl	rs199475671
geneview	rs199475671
scholar	rs199475671
google	rs199475671
pharmgkb	rs199475671
gwascentral	rs199475671
openSNP	rs199475671
23andMe	rs199475671
SNPshot	rs199475671
SNPdbe	rs199475671
MSV3d	rs199475671
GWAS Ctlg	rs199475671

Max Magnitude

3

ClinVar
Risk	rs199475671(A;A) rs199475671(C;C)
Alt	rs199475671(A;A) rs199475671(C;C)
Reference	Rs199475671(T;T)
Significance	Untested
Disease	not provided not specified
Variation	info
Gene	PAH
CLNDBN	not provided not specified
Reversed	1
HGVS	NC_000012.11:g.103249085A>G; NC_000012.11:g.103249085A>T
CLNSRC
CLNACC	RCV000088979.1, RCV000088978.1, RCV000328573.1,