rs1060500652
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ATGTAAGTT;ATGTAAGTT) | 0 | common in clinvar |
Make rs1060500652(-;-) |
Make rs1060500652(-;GTAAGTTAT) |
Make rs1060500652(GTAAGTTAT;GTAAGTTAT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 90765415 |
Gene | BLM |
is a | snp |
is | mentioned by |
dbSNP | rs1060500652 |
dbSNP (classic) | rs1060500652 |
ClinGen | rs1060500652 |
ebi | rs1060500652 |
HLI | rs1060500652 |
Exac | rs1060500652 |
Gnomad | rs1060500652 |
Varsome | rs1060500652 |
LitVar | rs1060500652 |
Map | rs1060500652 |
PheGenI | rs1060500652 |
Biobank | rs1060500652 |
1000 genomes | rs1060500652 |
hgdp | rs1060500652 |
ensembl | rs1060500652 |
geneview | rs1060500652 |
scholar | rs1060500652 |
rs1060500652 | |
pharmgkb | rs1060500652 |
gwascentral | rs1060500652 |
openSNP | rs1060500652 |
23andMe | rs1060500652 |
SNPshot | rs1060500652 |
SNPdbe | rs1060500652 |
MSV3d | rs1060500652 |
GWAS Ctlg | rs1060500652 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060500652(-;-) |
Alt | rs1060500652(-;-) |
Reference | Rs1060500652(ATGTAAGTT;ATGTAAGTT) |
Significance | Probable-Pathogenic |
Disease | Bloom syndrome |
Variation | info |
Gene | BLM |
CLNDBN | Bloom syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.91308645_91308653delGTAAGTTAT |
CLNSRC | |
CLNACC | RCV000469408.1, |