Submitter Handle GNOMAD Submitter SNP ID gnomad_17_17117777 RefSNP(rs#) rs1490930580 Submitted Batch ID genome_batch_chr17 Submitted Date May 23, 2017 Publication Cited N.D. First entry to dbSNP May 23 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 Assay Species Homo sapiens Molecular Type Genomic Method GNOMAD Ascertainment Samplesize 30992 Population N.D. Allele Observed Allele G/A 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 Homozygote Detected PCR Confirmed In Expressed Sequence Variation Frequency Submission population count: 9 Genotype Summary N.D. Genotype Submission N.D. Haplotype N.D.   Fasta sequence   (Legend) >gnl|dbSNP|ss2948241804|allelePos=26|len=51|taxid=9606|alleles='G/A'|mol=Genomic ACAAATATTA GCCAGGCATG GTGGT R GGTGCCTGTA ATCCCAGCTA CTCCA   Submitted Frequency for ss2948241804 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter NFE 14952 G=0.99993312 A=0.00006688 gnomad-NFE GNOMAD MALE 17060 G=1.00000000 A=0.00000000 gnomad-MALE GNOMAD FIN 3468 G=1.00000000 A=0.00000000 gnomad-FIN GNOMAD EAS 1620 G=1.00000000 A=0.00000000 gnomad-EAS GNOMAD AFR 8710 G=1.00000000 A=0.00000000 gnomad-AFR GNOMAD OTH 970 G=1.00000000 A=0.00000000 gnomad-OTH GNOMAD AMR 836 G=1.00000000 A=0.00000000 gnomad-AMR GNOMAD ASJ 302 G=1.00000000 A=0.00000000 gnomad-ASJ GNOMAD FEMALE 13798 G=0.99992752 A=0.00007247 gnomad-FEMALE GNOMAD   dbSNP summary of Genotypes for ss2948241804 No sufficient data to compute Hardy-weinberg probability for ss2948241804.   Submitted individual genotype for ss2948241804 There is no individual genotype data for ss2948241804.

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