Submitter Handle CLINVAR Submitter SNP ID SCV000507146 RefSNP(rs#) rs1057519943 Submitted Batch ID CLINVAR_2017-03-15 Submitted Date Apr 13, 2017 Publication Cited N.D. First entry to dbSNP Apr 13 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_033840.1:g.15927C>G Assay Species Homo sapiens Molecular Type genomic Method CLINICAL_SNP_SUBMISSION Ascertainment Samplesize N.D. Population N.D. Allele Observed Allele C/G Ancestral Allele N.D. Allele Origin N/A SNP Class SNV 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|ss2137498313|allelePos=51|len=101|taxid=9606|alleles='C/G'|mol=Genomic TGTGGTTTTG GCATTTGACA TTGAGACGAC CAAACTGCCC CTCAAGTTTC S TGATGCTGAG ACAGACCAGA TTATGATGAT TTCCTACATG ATCGATGGCC   Submitted Frequency for ss2137498313 There is no frequency submission for ss2137498313.   dbSNP summary of Genotypes for ss2137498313 No sufficient data to compute Hardy-weinberg probability for ss2137498313.   Submitted individual genotype for ss2137498313 There is no individual genotype data for ss2137498313.

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