rs777099958
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs777099958(-;C) |
Make rs777099958(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 46138584 |
Gene | FTCD |
is a | snp |
is | mentioned by |
dbSNP | rs777099958 |
dbSNP (classic) | rs777099958 |
ClinGen | rs777099958 |
ebi | rs777099958 |
HLI | rs777099958 |
Exac | rs777099958 |
Gnomad | rs777099958 |
Varsome | rs777099958 |
LitVar | rs777099958 |
Map | rs777099958 |
PheGenI | rs777099958 |
Biobank | rs777099958 |
1000 genomes | rs777099958 |
hgdp | rs777099958 |
ensembl | rs777099958 |
geneview | rs777099958 |
scholar | rs777099958 |
rs777099958 | |
pharmgkb | rs777099958 |
gwascentral | rs777099958 |
openSNP | rs777099958 |
23andMe | rs777099958 |
SNPshot | rs777099958 |
SNPdbe | rs777099958 |
MSV3d | rs777099958 |
GWAS Ctlg | rs777099958 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777099958(C;C) |
Alt | rs777099958(C;C) |
Reference | Rs777099958(-;-) |
Significance | Pathogenic |
Disease | GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY |
Variation | info |
Gene | FTCD |
CLNDBN | GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY |
Reversed | 0 |
HGVS | NC_000021.8:g.47558499dupC |
CLNSRC | |
CLNACC | RCV000174355.1, |