Submitter Handle GNOMAD Submitter SNP ID gnomad_3_129808287 RefSNP(rs#) rs1443956222 Submitted Batch ID genome_batch_chr3 Submitted Date May 18, 2017 Publication Cited N.D. First entry to dbSNP May 18 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|ss2799052598|allelePos=26|len=51|taxid=9606|alleles='G/A'|mol=Genomic GATGTGGCCA TCTTAATTGA GATAT R CTCTTAGTGT AAAATATACA CTAGA   Submitted Frequency for ss2799052598 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AFR 8700 G=0.99988508 A=0.00011494 gnomad-AFR GNOMAD OTH 974 G=1.00000000 A=0.00000000 gnomad-OTH GNOMAD FIN 3458 G=1.00000000 A=0.00000000 gnomad-FIN GNOMAD NFE 14912 G=1.00000000 A=0.00000000 gnomad-NFE GNOMAD EAS 1620 G=1.00000000 A=0.00000000 gnomad-EAS GNOMAD FEMALE 13766 G=0.99992734 A=0.00007264 gnomad-FEMALE GNOMAD ASJ 302 G=1.00000000 A=0.00000000 gnomad-ASJ GNOMAD AMR 834 G=1.00000000 A=0.00000000 gnomad-AMR GNOMAD MALE 17034 G=1.00000000 A=0.00000000 gnomad-MALE GNOMAD   dbSNP summary of Genotypes for ss2799052598 No sufficient data to compute Hardy-weinberg probability for ss2799052598.   Submitted individual genotype for ss2799052598 There is no individual genotype data for ss2799052598.

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