Submitter Handle GNOMAD Submitter SNP ID gnomad_1_10470 RefSNP(rs#) rs1424986436 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/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|ss2750600908|allelePos=26|len=51|taxid=9606|alleles='G/C/A'|mol=Genomic AACCCTAACC CTAACCCTAA CCCTC V CGGTACCCTC AGCCGGCCCG CCCGC   Submitted Frequency for ss2750600908 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 4026 C=0.00223547 G=0.99776453 A=0.00000000 gnomad-FEMALE GNOMAD OTH 298 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-OTH GNOMAD AFR 1754 C=0.00798176 G=0.99087799 A=0.00114025 gnomad-AFR GNOMAD MALE 4928 C=0.00344968 G=0.99614447 A=0.00040584 gnomad-MALE GNOMAD ASJ 104 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-ASJ GNOMAD AMR 134 C=0.02985075 G=0.97014928 A=0.00000000 gnomad-AMR GNOMAD EAS 136 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-EAS GNOMAD FIN 760 C=0.00526316 G=0.99473685 A=0.00000000 gnomad-FIN GNOMAD NFE 5768 C=0.00069348 G=0.99930650 A=0.00000000 gnomad-NFE GNOMAD   dbSNP summary of Genotypes for ss2750600908 No sufficient data to compute Hardy-weinberg probability for ss2750600908.   Submitted individual genotype for ss2750600908 There is no individual genotype data for ss2750600908.

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