rs672601294
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 3 | Carrier of a phenylketonuria mutation |
(C;C) | 0 | common in clinvar |
Make rs672601294(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102894897 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs672601294 |
dbSNP (classic) | rs672601294 |
ClinGen | rs672601294 |
ebi | rs672601294 |
HLI | rs672601294 |
Exac | rs672601294 |
Gnomad | rs672601294 |
Varsome | rs672601294 |
LitVar | rs672601294 |
Map | rs672601294 |
PheGenI | rs672601294 |
Biobank | rs672601294 |
1000 genomes | rs672601294 |
hgdp | rs672601294 |
ensembl | rs672601294 |
geneview | rs672601294 |
scholar | rs672601294 |
rs672601294 | |
pharmgkb | rs672601294 |
gwascentral | rs672601294 |
openSNP | rs672601294 |
23andMe | rs672601294 |
SNPshot | rs672601294 |
SNPdbe | rs672601294 |
MSV3d | rs672601294 |
GWAS Ctlg | rs672601294 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs672601294(-;-) |
Alt | rs672601294(-;-) |
Reference | Rs672601294(C;C) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103288675delG |
CLNSRC | |
CLNACC | RCV000088863.1, |