Submitter Handle GNOMAD Submitter SNP ID gnomad_19_60435 RefSNP(rs#) rs1240241852 Submitted Batch ID genome_batch_chr19 Submitted Date May 23, 2017 Publication Cited N.D. First entry to dbSNP May 23 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/T 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|ss2959401995|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic CTGAGTGTCG TCACCTAAAT TCAGA Y GGGGAACTGC CCCTGCACAT AGTGA   Submitted Frequency for ss2959401995 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter ASJ 72 C=1.00000000 T=0.00000000 gnomad-ASJ GNOMAD MALE 3312 C=0.99818838 T=0.00181159 gnomad-MALE GNOMAD NFE 2644 C=0.99735248 T=0.00264750 gnomad-NFE GNOMAD AFR 672 C=0.99553573 T=0.00446429 gnomad-AFR GNOMAD AMR 248 C=1.00000000 T=0.00000000 gnomad-AMR GNOMAD EAS 48 C=1.00000000 T=0.00000000 gnomad-EAS GNOMAD FEMALE 2876 C=0.99826145 T=0.00173853 gnomad-FEMALE GNOMAD FIN 2246 C=0.99955475 T=0.00044524 gnomad-FIN GNOMAD OTH 258 C=1.00000000 T=0.00000000 gnomad-OTH GNOMAD   dbSNP summary of Genotypes for ss2959401995 No sufficient data to compute Hardy-weinberg probability for ss2959401995.   Submitted individual genotype for ss2959401995 There is no individual genotype data for ss2959401995.

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