rs79931499

Orientation

plus

Stabilized

plus

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

Make rs79931499(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

102840477

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs79931499
dbSNP (classic)	rs79931499
ClinGen	rs79931499
ebi	rs79931499
HLI	rs79931499
Exac	rs79931499
Gnomad	rs79931499
Varsome	rs79931499
LitVar	rs79931499
Map	rs79931499
PheGenI	rs79931499
Biobank	rs79931499
1000 genomes	rs79931499
hgdp	rs79931499
ensembl	rs79931499
geneview	rs79931499
scholar	rs79931499
google	rs79931499
pharmgkb	rs79931499
gwascentral	rs79931499
openSNP	rs79931499
23andMe	rs79931499
SNPshot	rs79931499
SNPdbe	rs79931499
MSV3d	rs79931499
GWAS Ctlg	rs79931499

Merged from

Rs28934899

Max Magnitude

3

OMIM	612349
Desc
Variant	0016
Related	also

ClinVar
Risk	rs79931499(G;G) rs79931499(T;T)
Alt	rs79931499(G;G) rs79931499(T;T)
Reference	Rs79931499(C;C)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	0
HGVS	NC_000012.11:g.103234255C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000623.4, RCV000088813.2,