rs199475648
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AAGA) | 3 | Carrier of a phenylketonuria mutation |
(AAGA;AAGA) | 0 | common in clinvar |
Make rs199475648(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 102894740 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs199475648 |
dbSNP (classic) | rs199475648 |
ClinGen | rs199475648 |
ebi | rs199475648 |
HLI | rs199475648 |
Exac | rs199475648 |
Gnomad | rs199475648 |
Varsome | rs199475648 |
LitVar | rs199475648 |
Map | rs199475648 |
PheGenI | rs199475648 |
Biobank | rs199475648 |
1000 genomes | rs199475648 |
hgdp | rs199475648 |
ensembl | rs199475648 |
geneview | rs199475648 |
scholar | rs199475648 |
rs199475648 | |
pharmgkb | rs199475648 |
gwascentral | rs199475648 |
openSNP | rs199475648 |
23andMe | rs199475648 |
SNPshot | rs199475648 |
SNPdbe | rs199475648 |
MSV3d | rs199475648 |
GWAS Ctlg | rs199475648 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs199475648(-;-) |
Alt | rs199475648(-;-) |
Reference | Rs199475648(AAGA;AAGA) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | PAH |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103288518_103288521delTCTT |
CLNSRC | |
CLNACC | RCV000088899.1, |