rs62642936

Orientation

minus

Stabilized

minus

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

Make rs62642936(C;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102846932

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62642936
dbSNP (classic)	rs62642936
ClinGen	rs62642936
ebi	rs62642936
HLI	rs62642936
Exac	rs62642936
Gnomad	rs62642936
Varsome	rs62642936
LitVar	rs62642936
Map	rs62642936
PheGenI	rs62642936
Biobank	rs62642936
1000 genomes	rs62642936
hgdp	rs62642936
ensembl	rs62642936
geneview	rs62642936
scholar	rs62642936
google	rs62642936
pharmgkb	rs62642936
gwascentral	rs62642936
openSNP	rs62642936
23andMe	rs62642936
SNPshot	rs62642936
SNPdbe	rs62642936
MSV3d	rs62642936
GWAS Ctlg	rs62642936

Max Magnitude

3

OMIM	612349
Desc
Variant	0003
Related	also

ClinVar
Risk	rs62642936(C;C)
Alt	rs62642936(C;C)
Reference	Rs62642936(T;T)
Significance	Other
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103240710A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000608.6, RCV000089164.3,