Submitter Handle GNOMAD Submitter SNP ID gnomad_12_57481350 RefSNP(rs#) rs1490554756 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 A/G Ancestral Allele N.D. Allele Origin N/A SNP Class SNV 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|ss2910948167|allelePos=26|len=51|taxid=9606|alleles='A/G'|mol=Genomic GGGAGACGGG ACTCTGCTCG TTCCC R CCACCCCCAC TGTGTTTGGC GCTTA   Submitted Frequency for ss2910948167 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 13752 A=1.00000000 G=0.00000000 gnomad-FEMALE GNOMAD AFR 8674 A=1.00000000 G=0.00000000 gnomad-AFR GNOMAD AMR 838 A=1.00000000 G=0.00000000 gnomad-AMR GNOMAD EAS 1622 A=1.00000000 G=0.00000000 gnomad-EAS GNOMAD NFE 14856 A=0.99993271 G=0.00006731 gnomad-NFE GNOMAD ASJ 300 A=1.00000000 G=0.00000000 gnomad-ASJ GNOMAD FIN 3486 A=1.00000000 G=0.00000000 gnomad-FIN GNOMAD MALE 16988 A=0.99994111 G=0.00005887 gnomad-MALE GNOMAD OTH 964 A=1.00000000 G=0.00000000 gnomad-OTH GNOMAD   dbSNP summary of Genotypes for ss2910948167 No sufficient data to compute Hardy-weinberg probability for ss2910948167.   Submitted individual genotype for ss2910948167 There is no individual genotype data for ss2910948167.

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