rs5030861

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

12

Position

102840399

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030861
dbSNP (classic)	rs5030861
ClinGen	rs5030861
ebi	rs5030861
HLI	rs5030861
Exac	rs5030861
Gnomad	rs5030861
Varsome	rs5030861
LitVar	rs5030861
Map	rs5030861
PheGenI	rs5030861
Biobank	rs5030861
1000 genomes	rs5030861
hgdp	rs5030861
ensembl	rs5030861
geneview	rs5030861
scholar	rs5030861
google	rs5030861
pharmgkb	rs5030861
gwascentral	rs5030861
openSNP	rs5030861
23andMe	rs5030861
SNPshot	rs5030861
SNPdbe	rs5030861
MSV3d	rs5030861
GWAS Ctlg	rs5030861

Max Magnitude

6

aka c.1315+1G>T and also c.1315+1G>A

ClinVar
Risk	Rs5030861(A;A) rs5030861(T;T)
Alt	Rs5030861(A;A) rs5030861(T;T)
Reference	Rs5030861(G;G)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103234177C>A; NC_000012.11:g.103234177C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000410802.1, RCV000000606.5, RCV000078510.5,