rs62642938
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a phenylketonuria mutation |
Make rs62642938(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102912840 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs62642938 |
dbSNP (classic) | rs62642938 |
ClinGen | rs62642938 |
ebi | rs62642938 |
HLI | rs62642938 |
Exac | rs62642938 |
Gnomad | rs62642938 |
Varsome | rs62642938 |
LitVar | rs62642938 |
Map | rs62642938 |
PheGenI | rs62642938 |
Biobank | rs62642938 |
1000 genomes | rs62642938 |
hgdp | rs62642938 |
ensembl | rs62642938 |
geneview | rs62642938 |
scholar | rs62642938 |
rs62642938 | |
pharmgkb | rs62642938 |
gwascentral | rs62642938 |
openSNP | rs62642938 |
23andMe | rs62642938 |
SNPshot | rs62642938 |
SNPdbe | rs62642938 |
MSV3d | rs62642938 |
GWAS Ctlg | rs62642938 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs62642938(T;T) |
Alt | rs62642938(T;T) |
Reference | Rs62642938(C;C) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103306618G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000088797.1, |