Submitter Handle CLINVAR Submitter SNP ID SCV000365772 RefSNP(rs#) rs886047419 Submitted Batch ID CLINVAR_2016-12-14 Submitted Date Dec 18, 2016 Publication Cited N.D. First entry to dbSNP Dec 14 2016 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_007466.2:g.108493delT Assay Species Homo sapiens Molecular Type genomic Method CLINICAL_SNP_SUBMISSION Ascertainment Samplesize N.D. Population N.D. Allele Observed Allele T/- 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|ss2137080382|allelePos=51|len=101|taxid=9606|alleles='T/-'|mol=Genomic ATTTGCTATT GAAAGAATAG GGTTTTTTTT TTTTTTTTTT TTTTTTTTTT N AAATGTGCAG TGTTGAATCA TTTCTTCATA GTGCTCCCCC GAGTTGGGAC   Submitted Frequency for ss2137080382 There is no frequency submission for ss2137080382.   dbSNP summary of Genotypes for ss2137080382 No sufficient data to compute Hardy-weinberg probability for ss2137080382.   Submitted individual genotype for ss2137080382 There is no individual genotype data for ss2137080382.

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