Submitter Handle GNOMAD Submitter SNP ID gnomad_18_12201716 RefSNP(rs#) rs1491072281 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 AT/- 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|ss2954245426|allelePos=26|len=51|taxid=9606|alleles='AT/-'|mol=Genomic CTGGACAGCG AGACTCCTTC AAAAA N AAAAATAAAA ATAAAAAAGA GTTGT   Submitted Frequency for ss2954245426 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 13658 AT=0.99956071 -=0.00043930 gnomad-FEMALE GNOMAD MALE 16952 AT=0.99988204 -=0.00011798 gnomad-MALE GNOMAD AMR 806 AT=0.99875933 -=0.00124069 gnomad-AMR GNOMAD FIN 3306 AT=0.99848759 -=0.00151240 gnomad-FIN GNOMAD ASJ 298 AT=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD EAS 1616 AT=1.00000000 -=0.00000000 gnomad-EAS GNOMAD OTH 954 AT=0.99895179 -=0.00104822 gnomad-OTH GNOMAD AFR 8702 AT=1.00000000 -=0.00000000 gnomad-AFR GNOMAD NFE 14928 AT=0.99993300 -=0.00006699 gnomad-NFE GNOMAD   dbSNP summary of Genotypes for ss2954245426 No sufficient data to compute Hardy-weinberg probability for ss2954245426.   Submitted individual genotype for ss2954245426 There is no individual genotype data for ss2954245426.

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