rs75193786

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

12

Position

102894893

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs75193786
dbSNP (classic)	rs75193786
ClinGen	rs75193786
ebi	rs75193786
HLI	rs75193786
Exac	rs75193786
Gnomad	rs75193786
Varsome	rs75193786
LitVar	rs75193786
Map	rs75193786
PheGenI	rs75193786
Biobank	rs75193786
1000 genomes	rs75193786
hgdp	rs75193786
ensembl	rs75193786
geneview	rs75193786
scholar	rs75193786
google	rs75193786
pharmgkb	rs75193786
gwascentral	rs75193786
openSNP	rs75193786
23andMe	rs75193786
SNPshot	rs75193786
SNPdbe	rs75193786
MSV3d	rs75193786
GWAS Ctlg	rs75193786

GMAF

0.0004591

Max Magnitude

6

OMIM	612349
Desc
Variant	0063
Related	also

ClinVar
Risk	rs75193786(A;A) Rs75193786(C;C) rs75193786(G;G)
Alt	rs75193786(A;A) Rs75193786(C;C) rs75193786(G;G)
Reference	Rs75193786(T;T)
Significance	Other
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103288671A>C; NC_000012.11:g.103288671A>G; NC_000012.11:g.103288671A>T
CLNSRC	UniProtKB (protein) HGMD OMIM Allelic Variant
CLNACC	RCV000088866.1, RCV000000668.7, RCV000078516.5, RCV000088865.1,