rs1057517013
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs1057517013(-;-) |
Make rs1057517013(-;TA) |
Make rs1057517013(TA;TA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 90760852 |
Gene | BLM |
is a | snp |
is | mentioned by |
dbSNP | rs1057517013 |
dbSNP (classic) | rs1057517013 |
ClinGen | rs1057517013 |
ebi | rs1057517013 |
HLI | rs1057517013 |
Exac | rs1057517013 |
Gnomad | rs1057517013 |
Varsome | rs1057517013 |
LitVar | rs1057517013 |
Map | rs1057517013 |
PheGenI | rs1057517013 |
Biobank | rs1057517013 |
1000 genomes | rs1057517013 |
hgdp | rs1057517013 |
ensembl | rs1057517013 |
geneview | rs1057517013 |
scholar | rs1057517013 |
rs1057517013 | |
pharmgkb | rs1057517013 |
gwascentral | rs1057517013 |
openSNP | rs1057517013 |
23andMe | rs1057517013 |
SNPshot | rs1057517013 |
SNPdbe | rs1057517013 |
MSV3d | rs1057517013 |
GWAS Ctlg | rs1057517013 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517013(-;-) |
Alt | rs1057517013(-;-) |
Reference | Rs1057517013(AT;AT) |
Significance | Probable-Pathogenic |
Disease | Bloom syndrome |
Variation | info |
Gene | BLM |
CLNDBN | Bloom syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.91304082_91304083delTA |
CLNSRC | |
CLNACC | RCV000409376.1, |