rs1057520640
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057520640(A;A) |
Make rs1057520640(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 108287712 |
Gene | ATM |
is a | snp |
is | mentioned by |
dbSNP | rs1057520640 |
dbSNP (classic) | rs1057520640 |
ClinGen | rs1057520640 |
ebi | rs1057520640 |
HLI | rs1057520640 |
Exac | rs1057520640 |
Gnomad | rs1057520640 |
Varsome | rs1057520640 |
LitVar | rs1057520640 |
Map | rs1057520640 |
PheGenI | rs1057520640 |
Biobank | rs1057520640 |
1000 genomes | rs1057520640 |
hgdp | rs1057520640 |
ensembl | rs1057520640 |
geneview | rs1057520640 |
scholar | rs1057520640 |
rs1057520640 | |
pharmgkb | rs1057520640 |
gwascentral | rs1057520640 |
openSNP | rs1057520640 |
23andMe | rs1057520640 |
SNPshot | rs1057520640 |
SNPdbe | rs1057520640 |
MSV3d | rs1057520640 |
GWAS Ctlg | rs1057520640 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057520640(A;A) |
Alt | rs1057520640(A;A) |
Reference | Rs1057520640(C;C) |
Significance | Pathogenic |
Disease | not provided Ataxia-telangiectasia syndrome |
Variation | info |
Gene | ATM |
CLNDBN | not provided Ataxia-telangiectasia syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.108158439C>A |
CLNSRC | |
CLNACC | RCV000435435.1, RCV000472677.1, |