Submitter Handle GNOMAD Submitter SNP ID gnomad_2_175614907 RefSNP(rs#) rs1491478953 Submitted Batch ID genome_batch_chr2 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 CA/- Ancestral Allele N.D. Allele Origin N/A SNP Class DIV 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|ss2783073241|allelePos=26|len=51|taxid=9606|alleles='CA/-'|mol=Genomic GAGTCATCTT CTCCCCTGAA AAGAC N AAAAAAAAAA AAAAAATCCC ACAAC   Submitted Frequency for ss2783073241 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter NFE 2628 CA=1.00000000 -=0.00000000 gnomad-NFE GNOMAD EAS 62 CA=1.00000000 -=0.00000000 gnomad-EAS GNOMAD ASJ 92 CA=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD AMR 110 CA=1.00000000 -=0.00000000 gnomad-AMR GNOMAD FIN 402 CA=0.99004978 -=0.00995025 gnomad-FIN GNOMAD AFR 2220 CA=1.00000000 -=0.00000000 gnomad-AFR GNOMAD OTH 152 CA=0.99342108 -=0.00657895 gnomad-OTH GNOMAD MALE 3224 CA=0.99937963 -=0.00062035 gnomad-MALE GNOMAD FEMALE 2442 CA=0.99877149 -=0.00122850 gnomad-FEMALE GNOMAD   dbSNP summary of Genotypes for ss2783073241 No sufficient data to compute Hardy-weinberg probability for ss2783073241.   Submitted individual genotype for ss2783073241 There is no individual genotype data for ss2783073241.

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