rs199422259
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GTGGTGG;GTGGTGG) | 0 | common in clinvar |
Make rs199422259(-;-) |
Make rs199422259(-;GTGGTGG) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 169765027 |
Gene | TERC |
is a | snp |
is | mentioned by |
dbSNP | rs199422259 |
dbSNP (classic) | rs199422259 |
ClinGen | rs199422259 |
ebi | rs199422259 |
HLI | rs199422259 |
Exac | rs199422259 |
Gnomad | rs199422259 |
Varsome | rs199422259 |
LitVar | rs199422259 |
Map | rs199422259 |
PheGenI | rs199422259 |
Biobank | rs199422259 |
1000 genomes | rs199422259 |
hgdp | rs199422259 |
ensembl | rs199422259 |
geneview | rs199422259 |
scholar | rs199422259 |
rs199422259 | |
pharmgkb | rs199422259 |
gwascentral | rs199422259 |
openSNP | rs199422259 |
23andMe | rs199422259 |
SNPshot | rs199422259 |
SNPdbe | rs199422259 |
MSV3d | rs199422259 |
GWAS Ctlg | rs199422259 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199422259(-;-) |
Alt | rs199422259(-;-) |
Reference | Rs199422259(GTGGTGG;GTGGTGG) |
Significance | Pathogenic |
Disease | Aplastic anemia |
Variation | info |
Gene | TERC |
CLNDBN | Aplastic anemia |
Reversed | 1 |
HGVS | NC_000003.11:g.169482815_169482821delCCACCAC |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032567.1, |