Submitter Handle GNOMAD Submitter SNP ID gnomad_1_33742061 RefSNP(rs#) rs1436051511 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/A 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|ss2753468788|allelePos=26|len=51|taxid=9606|alleles='C/A'|mol=Genomic TCGTCGCAGC AGCCGTTGCT AGTGC M GCCGGCACCC GCCGAGAGCA GCCAG   Submitted Frequency for ss2753468788 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter ASJ 282 C=1.00000000 A=0.00000000 gnomad-ASJ GNOMAD MALE 16922 C=0.99994093 A=0.00005909 gnomad-MALE GNOMAD AMR 828 C=1.00000000 A=0.00000000 gnomad-AMR GNOMAD NFE 14770 C=1.00000000 A=0.00000000 gnomad-NFE GNOMAD FEMALE 13744 C=1.00000000 A=0.00000000 gnomad-FEMALE GNOMAD AFR 8712 C=0.99988520 A=0.00011478 gnomad-AFR GNOMAD OTH 968 C=1.00000000 A=0.00000000 gnomad-OTH GNOMAD EAS 1622 C=1.00000000 A=0.00000000 gnomad-EAS GNOMAD FIN 3484 C=1.00000000 A=0.00000000 gnomad-FIN GNOMAD   dbSNP summary of Genotypes for ss2753468788 No sufficient data to compute Hardy-weinberg probability for ss2753468788.   Submitted individual genotype for ss2753468788 There is no individual genotype data for ss2753468788.

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