rs140243918
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 3 | Carrier of a phenylketonuria mutation |
Make rs140243918(A;A) |
Make rs140243918(A;G) |
Make rs140243918(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102844399 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs140243918 |
dbSNP (classic) | rs140243918 |
ClinGen | rs140243918 |
ebi | rs140243918 |
HLI | rs140243918 |
Exac | rs140243918 |
Gnomad | rs140243918 |
Varsome | rs140243918 |
LitVar | rs140243918 |
Map | rs140243918 |
PheGenI | rs140243918 |
Biobank | rs140243918 |
1000 genomes | rs140243918 |
hgdp | rs140243918 |
ensembl | rs140243918 |
geneview | rs140243918 |
scholar | rs140243918 |
rs140243918 | |
pharmgkb | rs140243918 |
gwascentral | rs140243918 |
openSNP | rs140243918 |
23andMe | rs140243918 |
SNPshot | rs140243918 |
SNPdbe | rs140243918 |
MSV3d | rs140243918 |
GWAS Ctlg | rs140243918 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs140243918(A;A) |
Alt | rs140243918(A;A) |
Reference | rs140243918(G;G) |
Significance | Unknown |
Disease | not specified |
Variation | info |
Gene | PAH |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000012.11:g.103238177G>A |
CLNSRC | |
CLNACC | RCV000317688.1, |