rs786204543
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786204543(-;-) |
Make rs786204543(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108244096 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs786204543 |
dbSNP (classic) | rs786204543 |
ClinGen | rs786204543 |
ebi | rs786204543 |
HLI | rs786204543 |
Exac | rs786204543 |
Gnomad | rs786204543 |
Varsome | rs786204543 |
LitVar | rs786204543 |
Map | rs786204543 |
PheGenI | rs786204543 |
Biobank | rs786204543 |
1000 genomes | rs786204543 |
hgdp | rs786204543 |
ensembl | rs786204543 |
geneview | rs786204543 |
scholar | rs786204543 |
rs786204543 | |
pharmgkb | rs786204543 |
gwascentral | rs786204543 |
openSNP | rs786204543 |
23andMe | rs786204543 |
SNPshot | rs786204543 |
SNPdbe | rs786204543 |
MSV3d | rs786204543 |
GWAS Ctlg | rs786204543 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204543(-;-) |
Alt | rs786204543(-;-) |
Reference | Rs786204543(T;T) |
Significance | Probable-Pathogenic |
Disease | Ataxia-telangiectasia syndrome not provided |
Variation | info |
Gene | ATM |
CLNDBN | Ataxia-telangiectasia syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108114823delT |
CLNSRC | |
CLNACC | RCV000169254.1, RCV000494401.1, |