Submitter Handle GNOMAD Submitter SNP ID gnomad_17_54988656 RefSNP(rs#) rs1490748647 Submitted Batch ID genome_batch_chr17 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 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|ss2951003286|allelePos=26|len=51|taxid=9606|alleles='A/G'|mol=Genomic AAAGAAAAGA TTAAAAAATA TATAT R TATGGGCCGG GCGTGGTGGC TCACG   Submitted Frequency for ss2951003286 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter OTH 970 A=1.00000000 G=0.00000000 gnomad-OTH GNOMAD AFR 8676 A=1.00000000 G=0.00000000 gnomad-AFR GNOMAD MALE 17050 A=0.99994135 G=0.00005865 gnomad-MALE GNOMAD FIN 3474 A=1.00000000 G=0.00000000 gnomad-FIN GNOMAD NFE 14936 A=0.99993306 G=0.00006695 gnomad-NFE GNOMAD FEMALE 13752 A=1.00000000 G=0.00000000 gnomad-FEMALE GNOMAD ASJ 302 A=1.00000000 G=0.00000000 gnomad-ASJ GNOMAD AMR 832 A=1.00000000 G=0.00000000 gnomad-AMR GNOMAD EAS 1612 A=1.00000000 G=0.00000000 gnomad-EAS GNOMAD   dbSNP summary of Genotypes for ss2951003286 No sufficient data to compute Hardy-weinberg probability for ss2951003286.   Submitted individual genotype for ss2951003286 There is no individual genotype data for ss2951003286.

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