Submitter Handle GNOMAD Submitter SNP ID gnomad_4_142946077 RefSNP(rs#) rs1488138564 Submitted Batch ID genome_batch_chr4 Submitted Date May 18, 2017 Publication Cited N.D. First entry to dbSNP May 18 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 T/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|ss2816246189|allelePos=26|len=51|taxid=9606|alleles='T/G'|mol=Genomic TTTAATAATT TAATTATGAA TAAAA K ATAGTCATCA AATATGACTT TTAAC   Submitted Frequency for ss2816246189 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 T=1.00000000 G=0.00000000 gnomad-OTH GNOMAD FIN 3488 T=1.00000000 G=0.00000000 gnomad-FIN GNOMAD MALE 17074 T=0.99994141 G=0.00005857 gnomad-MALE GNOMAD AFR 8722 T=1.00000000 G=0.00000000 gnomad-AFR GNOMAD FEMALE 13844 T=1.00000000 G=0.00000000 gnomad-FEMALE GNOMAD ASJ 302 T=1.00000000 G=0.00000000 gnomad-ASJ GNOMAD NFE 14984 T=0.99993324 G=0.00006674 gnomad-NFE GNOMAD AMR 834 T=1.00000000 G=0.00000000 gnomad-AMR GNOMAD EAS 1612 T=1.00000000 G=0.00000000 gnomad-EAS GNOMAD   dbSNP summary of Genotypes for ss2816246189 No sufficient data to compute Hardy-weinberg probability for ss2816246189.   Submitted individual genotype for ss2816246189 There is no individual genotype data for ss2816246189.

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