rs1801152
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 3 | Carrier of a phenylketonuria mutation |
(C;C) | 0 | common in clinvar |
Make rs1801152(C;T) |
Make rs1801152(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102840473 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs1801152 |
dbSNP (classic) | rs1801152 |
ClinGen | rs1801152 |
ebi | rs1801152 |
HLI | rs1801152 |
Exac | rs1801152 |
Gnomad | rs1801152 |
Varsome | rs1801152 |
LitVar | rs1801152 |
Map | rs1801152 |
PheGenI | rs1801152 |
Biobank | rs1801152 |
1000 genomes | rs1801152 |
hgdp | rs1801152 |
ensembl | rs1801152 |
geneview | rs1801152 |
scholar | rs1801152 |
rs1801152 | |
pharmgkb | rs1801152 |
gwascentral | rs1801152 |
openSNP | rs1801152 |
23andMe | rs1801152 |
SNPshot | rs1801152 |
SNPdbe | rs1801152 |
MSV3d | rs1801152 |
GWAS Ctlg | rs1801152 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs1801152(T;T) |
Alt | rs1801152(T;T) |
Reference | Rs1801152(C;C) |
Significance | Other |
Disease | not provided not specified |
Variation | info |
Gene | PAH |
CLNDBN | not provided not specified |
Reversed | 1 |
HGVS | NC_000012.11:g.103234251G>A |
CLNSRC | |
CLNACC | RCV000088814.1, RCV000174235.3, |