Submitter Handle GNOMAD Submitter SNP ID gnomad_18_10235 RefSNP(rs#) rs1192000665 Submitted Batch ID genome_batch_chr18 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 ACCCCT/- 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|ss2953228217|allelePos=26|len=51|taxid=9606|alleles='ACCCCT/-'|mol=Genomic ACCCCAACCC CAACCCTAAC CCCTA N ACCCTAACCC TAACCCTAAC CCTAA   Submitted Frequency for ss2953228217 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter MALE 36 ACCCCT=1.00000000 -=0.00000000 gnomad-MALE GNOMAD FEMALE 46 ACCCCT=0.95652175 -=0.04347826 gnomad-FEMALE GNOMAD NFE 40 ACCCCT=1.00000000 -=0.00000000 gnomad-NFE GNOMAD FIN 20 ACCCCT=1.00000000 -=0.00000000 gnomad-FIN GNOMAD EAS 2 ACCCCT=1.00000000 -=0.00000000 gnomad-EAS GNOMAD AFR 10 ACCCCT=1.00000000 -=0.00000000 gnomad-AFR GNOMAD AMR 2 ACCCCT=1.00000000 -=0.00000000 gnomad-AMR GNOMAD ASJ 6 ACCCCT=0.66666669 -=0.33333334 gnomad-ASJ GNOMAD OTH 2 ACCCCT=1.00000000 -=0.00000000 gnomad-OTH GNOMAD   dbSNP summary of Genotypes for ss2953228217 No sufficient data to compute Hardy-weinberg probability for ss2953228217.   Submitted individual genotype for ss2953228217 There is no individual genotype data for ss2953228217.

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