Submitter Handle GNOMAD Submitter SNP ID gnomad_1_14909 RefSNP(rs#) rs1488889048 Submitted Batch ID genome_batch_chr1 Submitted Date May 17, 2017 Publication Cited N.D. First entry to dbSNP May 17 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 A/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 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|ss2750601442|allelePos=26|len=51|taxid=9606|alleles='A/G'|mol=Genomic CCCCCGGAGA CTTAAATACA GGAAG R AAAAGGCAGG ACAGAATTAC AAGGT   Submitted Frequency for ss2750601442 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FIN 3494 A=1.00000000 G=0.00000000 gnomad-FIN GNOMAD MALE 17120 A=1.00000000 G=0.00000000 gnomad-MALE GNOMAD NFE 15014 A=1.00000000 G=0.00000000 gnomad-NFE GNOMAD OTH 982 A=1.00000000 G=0.00000000 gnomad-OTH GNOMAD AFR 8730 A=1.00000000 G=0.00000000 gnomad-AFR GNOMAD FEMALE 13862 A=1.00000000 G=0.00000000 gnomad-FEMALE GNOMAD EAS 1622 A=1.00000000 G=0.00000000 gnomad-EAS GNOMAD ASJ 302 A=1.00000000 G=0.00000000 gnomad-ASJ GNOMAD AMR 838 A=1.00000000 G=0.00000000 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2750601442 No sufficient data to compute Hardy-weinberg probability for ss2750601442.   Submitted individual genotype for ss2750601442 There is no individual genotype data for ss2750601442.

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