Submitter Handle GNOMAD Submitter SNP ID gnomad_1_153591462 RefSNP(rs#) rs1283885643 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 G/A/C 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|ss2761239133|allelePos=26|len=51|taxid=9606|alleles='G/A/C'|mol=Genomic CCAGTACTCA TTGAACTTGA GCTCC V AGTCCTGATT CACATCCAAG CTCTT   Submitted Frequency for ss2761239133 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter OTH 976 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-OTH GNOMAD AMR 838 A=0.00119332 G=0.99880666 C=0.00000000 gnomad-AMR GNOMAD FIN 3492 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-FIN GNOMAD MALE 17102 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-MALE GNOMAD FEMALE 13848 G=0.99985558 A=0.00007221 C=0.00007221 gnomad-FEMALE GNOMAD ASJ 302 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-ASJ GNOMAD AFR 8716 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-AFR GNOMAD NFE 15006 C=0.00006664 G=0.99993336 A=0.00000000 gnomad-NFE GNOMAD EAS 1620 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-EAS GNOMAD   dbSNP summary of Genotypes for ss2761239133 No sufficient data to compute Hardy-weinberg probability for ss2761239133.   Submitted individual genotype for ss2761239133 There is no individual genotype data for ss2761239133.

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