Submitter Handle GNOMAD Submitter SNP ID gnomad_20_39657418 RefSNP(rs#) rs1490952326 Submitted Batch ID genome_batch_chr20 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 C/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|ss2967533072|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic TGCCTCTTTC CGCGAGCGCT GACGT Y GCCGACGTGT TGTTTAAAAG CGGCC   Submitted Frequency for ss2967533072 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AFR 8716 C=0.99977052 T=0.00022946 gnomad-AFR GNOMAD MALE 17096 C=0.99988300 T=0.00011699 gnomad-MALE GNOMAD NFE 14992 C=1.00000000 T=0.00000000 gnomad-NFE GNOMAD FEMALE 13844 C=0.99992776 T=0.00007223 gnomad-FEMALE GNOMAD FIN 3488 C=0.99971330 T=0.00028670 gnomad-FIN GNOMAD ASJ 302 C=1.00000000 T=0.00000000 gnomad-ASJ GNOMAD OTH 982 C=1.00000000 T=0.00000000 gnomad-OTH GNOMAD EAS 1622 C=1.00000000 T=0.00000000 gnomad-EAS GNOMAD AMR 838 C=1.00000000 T=0.00000000 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2967533072 No sufficient data to compute Hardy-weinberg probability for ss2967533072.   Submitted individual genotype for ss2967533072 There is no individual genotype data for ss2967533072.

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