rs730881386
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 6 | Breast cancer associated mutation |
(G;G) | 0 | common in clinvar |
Make rs730881386(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108365324 |
Gene | ATM, C11orf65 |
is a | snp |
is | mentioned by |
dbSNP | rs730881386 |
dbSNP (classic) | rs730881386 |
ClinGen | rs730881386 |
ebi | rs730881386 |
HLI | rs730881386 |
Exac | rs730881386 |
Gnomad | rs730881386 |
Varsome | rs730881386 |
LitVar | rs730881386 |
Map | rs730881386 |
PheGenI | rs730881386 |
Biobank | rs730881386 |
1000 genomes | rs730881386 |
hgdp | rs730881386 |
ensembl | rs730881386 |
geneview | rs730881386 |
scholar | rs730881386 |
rs730881386 | |
pharmgkb | rs730881386 |
gwascentral | rs730881386 |
openSNP | rs730881386 |
23andMe | rs730881386 |
SNPshot | rs730881386 |
SNPdbe | rs730881386 |
MSV3d | rs730881386 |
GWAS Ctlg | rs730881386 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs730881386(A;A) rs730881386(C;C) |
Alt | rs730881386(A;A) rs730881386(C;C) |
Reference | Rs730881386(G;G) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia syndrome not provided |
Variation | info |
Gene | C11orf65 ATM |
CLNDBN | Ataxia-telangiectasia syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.108236051G>A; NC_000011.9:g.108236051G>C |
CLNSRC | |
CLNACC | RCV000203896.1, RCV000440256.1, RCV000159756.4, |