Submitter Handle GNOMAD Submitter SNP ID gnomad_17_18965257 RefSNP(rs#) rs1482971157 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 G/T 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|ss2948392313|allelePos=26|len=51|taxid=9606|alleles='G/T'|mol=Genomic TACTTTCAGG GATCATTTCT ATAGT K TGTTACTAGA GAAGTTTCTC TGAAC   Submitted Frequency for ss2948392313 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter OTH 506 G=1.00000000 T=0.00000000 gnomad-OTH GNOMAD AFR 5110 G=1.00000000 T=0.00000000 gnomad-AFR GNOMAD FIN 2460 G=1.00000000 T=0.00000000 gnomad-FIN GNOMAD MALE 9346 G=0.99989301 T=0.00010700 gnomad-MALE GNOMAD NFE 8102 G=1.00000000 T=0.00000000 gnomad-NFE GNOMAD FEMALE 7738 G=1.00000000 T=0.00000000 gnomad-FEMALE GNOMAD AMR 530 G=0.99811321 T=0.00188679 gnomad-AMR GNOMAD EAS 248 G=1.00000000 T=0.00000000 gnomad-EAS GNOMAD ASJ 128 G=1.00000000 T=0.00000000 gnomad-ASJ GNOMAD   dbSNP summary of Genotypes for ss2948392313 No sufficient data to compute Hardy-weinberg probability for ss2948392313.   Submitted individual genotype for ss2948392313 There is no individual genotype data for ss2948392313.

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