Submitter Handle GNOMAD Submitter SNP ID rs2531228 RefSNP(rs#) rs2531228 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|ss2750603534|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic AAAATGAGAA CATTCCAAAA GTCAA Y CATCCAAGTT TATTCTAAAT AGATG   Submitted Frequency for ss2750603534 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter MALE 9278 C=0.99708986 T=0.00291011 gnomad-MALE GNOMAD AFR 5480 C=0.99507302 T=0.00492701 gnomad-AFR GNOMAD AMR 362 C=0.99171269 T=0.00828729 gnomad-AMR GNOMAD OTH 498 C=1.00000000 T=0.00000000 gnomad-OTH GNOMAD EAS 1382 C=0.99927640 T=0.00072359 gnomad-EAS GNOMAD FEMALE 7170 C=0.99707115 T=0.00292887 gnomad-FEMALE GNOMAD ASJ 126 C=0.99206346 T=0.00793651 gnomad-ASJ GNOMAD NFE 7254 C=0.99793220 T=0.00206782 gnomad-NFE GNOMAD FIN 1346 C=0.99925709 T=0.00074294 gnomad-FIN GNOMAD   dbSNP summary of Genotypes for ss2750603534 No sufficient data to compute Hardy-weinberg probability for ss2750603534.   Submitted individual genotype for ss2750603534 There is no individual genotype data for ss2750603534.

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