Submitter Handle GNOMAD Submitter SNP ID rs114222710 RefSNP(rs#) rs114222710 Submitted Batch ID genome_batch_chr1 Submitted Date May 17, 2017 Publication Cited N.D. First entry to dbSNP May 17 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|ss2750633451|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic CCAAATCCTA TAAAACAGCC CCACC Y GTCTCCCTTC ACTGACTCCT TTTTC   Submitted Frequency for ss2750633451 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AFR 8700 C=0.91597700 T=0.08402299 gnomad-AFR GNOMAD AMR 838 C=0.97732699 T=0.02267303 gnomad-AMR GNOMAD MALE 17096 C=0.97309309 T=0.02690688 gnomad-MALE GNOMAD EAS 1622 C=1.00000000 T=0.00000000 gnomad-EAS GNOMAD FIN 3488 C=0.99971330 T=0.00028670 gnomad-FIN GNOMAD NFE 15006 C=0.99660134 T=0.00339864 gnomad-NFE GNOMAD ASJ 302 C=0.99668872 T=0.00331126 gnomad-ASJ GNOMAD OTH 980 C=0.98979592 T=0.01020408 gnomad-OTH GNOMAD FEMALE 13840 C=0.97449422 T=0.02550578 gnomad-FEMALE GNOMAD   dbSNP summary of Genotypes for ss2750633451 No sufficient data to compute Hardy-weinberg probability for ss2750633451.   Submitted individual genotype for ss2750633451 There is no individual genotype data for ss2750633451.

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