rs199475697
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;22) | 3 | Carrier of a phenylketonuria mutation |
(TATAAAACCCATGCTTGCTATG;TATAAAACCCATGCTTGCTATG) | 0 | common in clinvar |
Make rs199475697(-;-) |
Make rs199475697(-;TATAAAACCCATGCTTGCTATG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102855229 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs199475697 |
dbSNP (classic) | rs199475697 |
ClinGen | rs199475697 |
ebi | rs199475697 |
HLI | rs199475697 |
Exac | rs199475697 |
Gnomad | rs199475697 |
Varsome | rs199475697 |
LitVar | rs199475697 |
Map | rs199475697 |
PheGenI | rs199475697 |
Biobank | rs199475697 |
1000 genomes | rs199475697 |
hgdp | rs199475697 |
ensembl | rs199475697 |
geneview | rs199475697 |
scholar | rs199475697 |
rs199475697 | |
pharmgkb | rs199475697 |
gwascentral | rs199475697 |
openSNP | rs199475697 |
23andMe | rs199475697 |
SNPshot | rs199475697 |
SNPdbe | rs199475697 |
MSV3d | rs199475697 |
GWAS Ctlg | rs199475697 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs199475697(-;-) |
Alt | rs199475697(-;-) |
Reference | Rs199475697(TATAAAACCCATGCTTGCTATG;TATAAAACCCATGCTTGCTATG) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103249007_103249028del22 |
CLNSRC | |
CLNACC | RCV000088995.1, |