Submitter Handle GNOMAD Submitter SNP ID rs202004563 RefSNP(rs#) rs202004563 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 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|ss2750604458|allelePos=26|len=51|taxid=9606|alleles='A/G'|mol=Genomic ACTGTCCAAC GACATTCCTC AAATG R TTTATCCAAA GCATTCTTCA CTTCG   Submitted Frequency for ss2750604458 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AFR 8018 A=0.99376404 G=0.00623597 gnomad-AFR GNOMAD OTH 790 A=0.95696205 G=0.04303797 gnomad-OTH GNOMAD AMR 662 A=0.85649544 G=0.14350453 gnomad-AMR GNOMAD ASJ 232 A=0.97844827 G=0.02155172 gnomad-ASJ GNOMAD FEMALE 11488 A=0.96639973 G=0.03360028 gnomad-FEMALE GNOMAD NFE 12130 A=0.97337180 G=0.02662819 gnomad-NFE GNOMAD EAS 1332 A=0.74549550 G=0.25450450 gnomad-EAS GNOMAD MALE 14434 A=0.96328115 G=0.03671886 gnomad-MALE GNOMAD FIN 2758 A=0.97461927 G=0.02538071 gnomad-FIN GNOMAD   dbSNP summary of Genotypes for ss2750604458 No sufficient data to compute Hardy-weinberg probability for ss2750604458.   Submitted individual genotype for ss2750604458 There is no individual genotype data for ss2750604458.

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