Rs113993962

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.