Submitter Handle CLINVAR Submitter SNP ID SCV000487016 RefSNP(rs#) rs1057517268 Submitted Batch ID CLINVAR_2017-01-11 Submitted Date Jan 12, 2017 Publication Cited N.D. First entry to dbSNP Jan 9 2017 12:00:00:000AM Resource Links Submitted Gene Name N.D Submitted Gene ID N.D. Submitted SNP Synonyms N.D Submitted linkout N.D Submitted HGVS NG_009556.1:g.9119_9120delAG Assay Species Homo sapiens Molecular Type genomic Method CLINICAL_SNP_SUBMISSION Ascertainment Samplesize N.D. Population N.D. Allele Observed Allele AG/- Ancestral Allele N.D. Allele Origin N/A SNP Class DIV CpG Code N.D. Validation Validation Status Not Validated HWE Goodness of Fit not applicable Variation Frequency Submission N.D. Genotype Summary N.D. Genotype Submission N.D. Haplotype N.D.   Fasta sequence   (Legend) >gnl|dbSNP|ss2137339295|allelePos=51|len=101|taxid=9606|alleles='AG/-'|mol=Genomic CTGAGGCTGC CCCCATTGCT GACGCCCCTC TTCCTTGCAG GGTGGAGGTG N GCTAGGCTGG GCCAGCAGGG CAGCGTTCCC GCCCCTCTGG CCCTCCCCAG   Submitted Frequency for ss2137339295 There is no frequency submission for ss2137339295.   dbSNP summary of Genotypes for ss2137339295 No sufficient data to compute Hardy-weinberg probability for ss2137339295.   Submitted individual genotype for ss2137339295 There is no individual genotype data for ss2137339295.

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