Submitter Handle GNOMAD Submitter SNP ID gnomad_22_21398454 RefSNP(rs#) rs1230413135 Submitted Batch ID genome_batch_chr22 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|ss2973106004|allelePos=26|len=51|taxid=9606|alleles='A/G'|mol=Genomic GGCCCCCACC TGAGGTGGCT TCACG R AGTCGGCCAC ATCCCACAGC CGGTT   Submitted Frequency for ss2973106004 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 13842 A=1.00000000 G=0.00000000 gnomad-FEMALE GNOMAD FIN 3492 A=1.00000000 G=0.00000000 gnomad-FIN GNOMAD AFR 8714 A=1.00000000 G=0.00000000 gnomad-AFR GNOMAD NFE 14990 A=0.99993330 G=0.00006671 gnomad-NFE GNOMAD OTH 980 A=1.00000000 G=0.00000000 gnomad-OTH GNOMAD MALE 17092 A=0.99994147 G=0.00005851 gnomad-MALE GNOMAD EAS 1618 A=1.00000000 G=0.00000000 gnomad-EAS GNOMAD ASJ 302 A=1.00000000 G=0.00000000 gnomad-ASJ GNOMAD AMR 838 A=1.00000000 G=0.00000000 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2973106004 No sufficient data to compute Hardy-weinberg probability for ss2973106004.   Submitted individual genotype for ss2973106004 There is no individual genotype data for ss2973106004.

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