Submitter Handle GNOMAD Submitter SNP ID gnomad_20_62573306 RefSNP(rs#) rs1488618498 Submitted Batch ID genome_batch_chr20 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/- 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 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|ss2969478137|allelePos=26|len=51|taxid=9606|alleles='G/-'|mol=Genomic CAGGGGAAGG AAAGAGGCAG GGCAC N GAATTGGGTG TGGCAGGGCA GAAAA   Submitted Frequency for ss2969478137 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AFR 8270 G=1.00000000 -=0.00000000 gnomad-AFR GNOMAD EAS 1560 G=1.00000000 -=0.00000000 gnomad-EAS GNOMAD OTH 922 G=1.00000000 -=0.00000000 gnomad-OTH GNOMAD ASJ 294 G=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD MALE 16314 G=1.00000000 -=0.00000000 gnomad-MALE GNOMAD FIN 3368 G=1.00000000 -=0.00000000 gnomad-FIN GNOMAD NFE 14236 G=0.99992973 -=0.00007024 gnomad-NFE GNOMAD FEMALE 13144 G=0.99992394 -=0.00007608 gnomad-FEMALE GNOMAD AMR 808 G=1.00000000 -=0.00000000 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2969478137 No sufficient data to compute Hardy-weinberg probability for ss2969478137.   Submitted individual genotype for ss2969478137 There is no individual genotype data for ss2969478137.

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