Submitter Handle GNOMAD Submitter SNP ID gnomad_19_48257144 RefSNP(rs#) rs1491101900 Submitted Batch ID genome_batch_chr19 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|ss2963586287|allelePos=26|len=51|taxid=9606|alleles='AT/-'|mol=Genomic ACTGTCCGTA AAGGAAACCT CACAC N GTCAGCCATC ACCCCCGCAA TTCCC   Submitted Frequency for ss2963586287 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter NFE 14998 AT=1.00000000 -=0.00000000 gnomad-NFE GNOMAD EAS 1614 AT=1.00000000 -=0.00000000 gnomad-EAS GNOMAD OTH 980 AT=1.00000000 -=0.00000000 gnomad-OTH GNOMAD ASJ 300 AT=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD AMR 838 AT=1.00000000 -=0.00000000 gnomad-AMR GNOMAD AFR 8718 AT=0.99988532 -=0.00011471 gnomad-AFR GNOMAD MALE 17106 AT=0.99994153 -=0.00005846 gnomad-MALE GNOMAD FIN 3492 AT=1.00000000 -=0.00000000 gnomad-FIN GNOMAD FEMALE 13834 AT=1.00000000 -=0.00000000 gnomad-FEMALE GNOMAD   dbSNP summary of Genotypes for ss2963586287 No sufficient data to compute Hardy-weinberg probability for ss2963586287.   Submitted individual genotype for ss2963586287 There is no individual genotype data for ss2963586287.

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