Submitter Handle GNOMAD Submitter SNP ID rs112018535 RefSNP(rs#) rs112018535 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 CA/- 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|ss2750670598|allelePos=26|len=51|taxid=9606|alleles='CA/-'|mol=Genomic TGACAACATG CTAGCAGCCC TCACT N CTCTCAGCAC CTCCTGGGCC TCAGC   Submitted Frequency for ss2750670598 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter OTH 980 CA=0.99795920 -=0.00204082 gnomad-OTH GNOMAD AFR 8728 CA=0.94924378 -=0.05075619 gnomad-AFR GNOMAD ASJ 302 CA=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD NFE 14996 CA=0.99993330 -=0.00006668 gnomad-NFE GNOMAD FIN 3490 CA=1.00000000 -=0.00000000 gnomad-FIN GNOMAD AMR 838 CA=0.99761337 -=0.00238663 gnomad-AMR GNOMAD FEMALE 13836 CA=0.98713499 -=0.01286499 gnomad-FEMALE GNOMAD MALE 17116 CA=0.98422527 -=0.01577471 gnomad-MALE GNOMAD EAS 1618 CA=1.00000000 -=0.00000000 gnomad-EAS GNOMAD   dbSNP summary of Genotypes for ss2750670598 No sufficient data to compute Hardy-weinberg probability for ss2750670598.   Submitted individual genotype for ss2750670598 There is no individual genotype data for ss2750670598.

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