rs202189057
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs202189057(A;T) |
Make rs202189057(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 6617695 |
Gene | TPP1 |
is a | snp |
is | mentioned by |
dbSNP | rs202189057 |
dbSNP (classic) | rs202189057 |
ClinGen | rs202189057 |
ebi | rs202189057 |
HLI | rs202189057 |
Exac | rs202189057 |
Gnomad | rs202189057 |
Varsome | rs202189057 |
LitVar | rs202189057 |
Map | rs202189057 |
PheGenI | rs202189057 |
Biobank | rs202189057 |
1000 genomes | rs202189057 |
hgdp | rs202189057 |
ensembl | rs202189057 |
geneview | rs202189057 |
scholar | rs202189057 |
rs202189057 | |
pharmgkb | rs202189057 |
gwascentral | rs202189057 |
openSNP | rs202189057 |
23andMe | rs202189057 |
SNPshot | rs202189057 |
SNPdbe | rs202189057 |
MSV3d | rs202189057 |
GWAS Ctlg | rs202189057 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202189057(T;T) |
Alt | rs202189057(T;T) |
Reference | Rs202189057(A;A) |
Significance | Pathogenic |
Disease | not provided Inborn genetic diseases |
Variation | info |
Gene | TPP1 |
CLNDBN | not provided Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000011.9:g.6638926A>T |
CLNSRC | |
CLNACC | RCV000189751.1, RCV000210549.1, |