Submitter Handle GNOMAD Submitter SNP ID gnomad_6_168712241 RefSNP(rs#) rs1491458344 Submitted Batch ID genome_batch_chr6 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 -/CCAT 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|ss2848261695|allelePos=26|len=51|taxid=9606|alleles='-/CCAT'|mol=Genomic CATCCACACA CACATACACA CACTC N ACACACAAAC ACACACACCC ATCCA   Submitted Frequency for ss2848261695 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 7510 -=0.99840212 CCAT=0.00159787 gnomad-FEMALE GNOMAD NFE 8442 -=0.99846005 CCAT=0.00153992 gnomad-NFE GNOMAD OTH 514 -=1.00000000 CCAT=0.00000000 gnomad-OTH GNOMAD AMR 438 -=0.99771690 CCAT=0.00228310 gnomad-AMR GNOMAD MALE 9422 -=0.99851412 CCAT=0.00148588 gnomad-MALE GNOMAD ASJ 150 -=1.00000000 CCAT=0.00000000 gnomad-ASJ GNOMAD EAS 1136 -=0.99559861 CCAT=0.00440141 gnomad-EAS GNOMAD AFR 4358 -=0.99862319 CCAT=0.00137678 gnomad-AFR GNOMAD FIN 1894 -=0.99947202 CCAT=0.00052798 gnomad-FIN GNOMAD   dbSNP summary of Genotypes for ss2848261695 No sufficient data to compute Hardy-weinberg probability for ss2848261695.   Submitted individual genotype for ss2848261695 There is no individual genotype data for ss2848261695.

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