Submitter Handle GNOMAD Submitter SNP ID gnomad_5_140472384 RefSNP(rs#) clustering in process Submitted Batch ID genome_batch_chr5 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 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|ss2831528850|allelePos=26|len=51|taxid=9606|alleles='A/G'|mol=Genomic TATGATGTCT GCAAGTTACT TTCAT R TAAGTCATCA GAAAAGCGGG TGTGT   Submitted Frequency for ss2831528850 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 13840 A=0.99992776 G=0.00007225 gnomad-FEMALE GNOMAD FIN 3474 A=1.00000000 G=0.00000000 gnomad-FIN GNOMAD MALE 17116 A=1.00000000 G=0.00000000 gnomad-MALE GNOMAD OTH 982 A=1.00000000 G=0.00000000 gnomad-OTH GNOMAD AFR 8728 A=0.99988544 G=0.00011457 gnomad-AFR GNOMAD AMR 836 A=1.00000000 G=0.00000000 gnomad-AMR GNOMAD ASJ 302 A=1.00000000 G=0.00000000 gnomad-ASJ GNOMAD EAS 1622 A=1.00000000 G=0.00000000 gnomad-EAS GNOMAD NFE 15012 A=1.00000000 G=0.00000000 gnomad-NFE GNOMAD   dbSNP summary of Genotypes for ss2831528850 No sufficient data to compute Hardy-weinberg probability for ss2831528850.   Submitted individual genotype for ss2831528850 There is no individual genotype data for ss2831528850.

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