{{Rsnum
|rsid=113993962
|geno1=(-;-)
|geno2=(-;ATCTGA)
|geno3=(ATCTGA;ATCTGA)
|Chromosome=15
|Orientation=plus
|Gene=BLM
|position=90766923
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=BLM
}}[[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 [http://www.ncbi.nlm.nih.gov/omim/604610#604610Variants0001 OMIM 604610.0001].
{{omim
|id=604610
|rsnum=113993962
|variant=0001
}}{{ClinVar
|rsid=113993962
|Reversed=0
|FwdREF=ATCTGA
|FwdALT=
TAGATTC
|REF=TATCTGA
|ALT=TTAGATTC
|RSPOS=91310152
|CHROM=15
|dbSNPBuildID=137
|SSR=0
|SAO=1
|VP=0x050368000000000002110200
|GENEINFO=BLM:641
|GENE_NAME=BLM
|GENE_ID=641
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.91310153_91310158delATCTGAinsTAGATTC
|CLNSRC=GTR; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=GTR000321624; GTR000334181; GTR000501121; NBK1398; 604610.0001
|CLNSIG=5
|CLNCUI=C0005859
|CLNDBN=Bloom syndrome; not provided
|Disease=Bloom syndrome; not provided
|CLNACC=RCV000005787.2; RCV000058933.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1398:C0005859:210900:125:4434006
}}{{PMID Auto
|PMID=9837821
|Title=The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.
|OA=1
}}