rs786200861
From SNPedia
Merged into | rs62516096 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TCT) | 3 | Carrier of a phenylketonuria mutation |
(TCT;TCT) | 0 | common in clinvar |
Make rs786200861(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 102843751 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs786200861 |
dbSNP (classic) | rs786200861 |
ClinGen | rs786200861 |
ebi | rs786200861 |
HLI | rs786200861 |
Exac | rs786200861 |
Gnomad | rs786200861 |
Varsome | rs786200861 |
LitVar | rs786200861 |
Map | rs786200861 |
PheGenI | rs786200861 |
Biobank | rs786200861 |
1000 genomes | rs786200861 |
hgdp | rs786200861 |
ensembl | rs786200861 |
geneview | rs786200861 |
scholar | rs786200861 |
rs786200861 | |
pharmgkb | rs786200861 |
gwascentral | rs786200861 |
openSNP | rs786200861 |
23andMe | rs786200861 |
SNPshot | rs786200861 |
SNPdbe | rs786200861 |
MSV3d | rs786200861 |
GWAS Ctlg | rs786200861 |
Status | Merged into rs62516096 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs786200861(TCT;TCT) |
Significance | Pathogenic |
Disease | Phenylketonuria not provided |
Variation | info |
Gene | PAH |
CLNDBN | Phenylketonuria not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103237529_103237531delAGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000628.4, RCV000088752.1, |