rs113993962
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 6.6 | Bloom syndrome; homozygote for most common mutation |
| (-;ATCTGA) | 3 | carrier for Bloom syndrome mutation |
| (ATCTGA;ATCTGA) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 90766923 |
| Gene | BLM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113993962 |
| dbSNP (classic) | rs113993962 |
| ClinGen | rs113993962 |
| ebi | rs113993962 |
| HLI | rs113993962 |
| Exac | rs113993962 |
| Gnomad | rs113993962 |
| Varsome | rs113993962 |
| LitVar | rs113993962 |
| Map | rs113993962 |
| PheGenI | rs113993962 |
| Biobank | rs113993962 |
| 1000 genomes | rs113993962 |
| hgdp | rs113993962 |
| ensembl | rs113993962 |
| geneview | rs113993962 |
| scholar | rs113993962 |
| rs113993962 | |
| pharmgkb | rs113993962 |
| gwascentral | rs113993962 |
| openSNP | rs113993962 |
| 23andMe | rs113993962 |
| SNPshot | rs113993962 |
| SNPdbe | rs113993962 |
| MSV3d | rs113993962 |
| GWAS Ctlg | rs113993962 |
| Max Magnitude | 6.6 |
rs113993962 is a variant in the RECQL3 gene causing Bloom syndrome, and this particular SNP accounts for >95% of such cases in the Ashkenazi population. Note that this variation is somewhat complex, in that it represents a deletion of 6 bases along with an insertion of 7 bases at the same site. The terminology used in dbSNP (and here in SNPedia) indicates the normal allele as having the six bases ATCTGA, whereas the abnormal allele is shown only as a deletion of these six bases, without indicating the insertion. See also OMIM 604610.0001.
23andMe name: i4000396 However, note that the (D;D) genotype represents the normal genotype as reported for this i-SNP (contrary to convention)
| ClinVar | |
|---|---|
| Risk | rs113993962(TAGATTC;TAGATTC) |
| Alt | rs113993962(TAGATTC;TAGATTC) |
| Reference | Rs113993962(ATCTGA;ATCTGA) |
| Significance | Pathogenic |
| Disease | Bloom syndrome not provided Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | BLM |
| CLNDBN | Bloom syndrome not provided Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000015.10:g.90766923_90766928delATCTGAinsTAGATTC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005787.4, RCV000058933.1, RCV000115290.1, |
[PMID 9837821
] The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.
