Submitter Handle CLINVAR Submitter SNP ID SCV000566108_407054 RefSNP(rs#) rs1064793434 Submitted Batch ID CLINVAR_2017-05-10 Submitted Date May 19, 2017 Publication Cited N.D. First entry to dbSNP May 19 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_008916.1:g.33949delG Assay Species Homo sapiens Molecular Type genomic Method CLINICAL_SNP_SUBMISSION Ascertainment Samplesize N.D. Population N.D. Allele Observed Allele G/- 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|ss2137521071|allelePos=51|len=101|taxid=9606|alleles='G/-'|mol=Genomic AGCCTCTGAA CCTGTATGCA AGGCCTGGCA AGTCGAACGG GGATGTGCGG N CCCTCACCTA CTGTGACCTA CACAAGATCC ATCGGGACGA CCTGCTGGAG   Submitted Frequency for ss2137521071 There is no frequency submission for ss2137521071.   dbSNP summary of Genotypes for ss2137521071 No sufficient data to compute Hardy-weinberg probability for ss2137521071.   Submitted individual genotype for ss2137521071 There is no individual genotype data for ss2137521071.

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