Submitter Handle GNOMAD Submitter SNP ID gnomad_12_49049512 RefSNP(rs#) rs1472605274 Submitted Batch ID genome_batch_chr12 Submitted Date May 22, 2017 Publication Cited N.D. First entry to dbSNP May 22 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 TA/- 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|ss2910265810|allelePos=26|len=51|taxid=9606|alleles='TA/-'|mol=Genomic CTGGAACAGA AAATGGTGAT AGCTG N CAACATGGTA AATGTTCATA ACACC   Submitted Frequency for ss2910265810 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AFR 8730 TA=1.00000000 -=0.00000000 gnomad-AFR GNOMAD AMR 838 TA=1.00000000 -=0.00000000 gnomad-AMR GNOMAD FIN 3494 TA=1.00000000 -=0.00000000 gnomad-FIN GNOMAD MALE 17120 TA=1.00000000 -=0.00000000 gnomad-MALE GNOMAD EAS 1622 TA=0.99938345 -=0.00061652 gnomad-EAS GNOMAD FEMALE 13856 TA=0.99992782 -=0.00007217 gnomad-FEMALE GNOMAD NFE 15010 TA=1.00000000 -=0.00000000 gnomad-NFE GNOMAD ASJ 300 TA=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD OTH 982 TA=1.00000000 -=0.00000000 gnomad-OTH GNOMAD   dbSNP summary of Genotypes for ss2910265810 No sufficient data to compute Hardy-weinberg probability for ss2910265810.   Submitted individual genotype for ss2910265810 There is no individual genotype data for ss2910265810.

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