Submitter Handle GNOMAD Submitter SNP ID gnomad_17_41726682 RefSNP(rs#) rs1491550537 Submitted Batch ID genome_batch_chr17 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 -/TTTTA 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|ss2949961202|allelePos=26|len=51|taxid=9606|alleles='-/TTTTA'|mol=Genomic CTTTTTTTTT TTTTTTTTTT TTTTT N GAGGCTGAGT CTCACTTTGG TCACC   Submitted Frequency for ss2949961202 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AFR 5916 -=1.00000000 TTTTA=0.00000000 gnomad-AFR GNOMAD FEMALE 11680 -=0.99991441 TTTTA=0.00008562 gnomad-FEMALE GNOMAD EAS 1400 -=1.00000000 TTTTA=0.00000000 gnomad-EAS GNOMAD AMR 726 -=1.00000000 TTTTA=0.00000000 gnomad-AMR GNOMAD NFE 13890 -=0.99985600 TTTTA=0.00014399 gnomad-NFE GNOMAD MALE 14414 -=0.99993062 TTTTA=0.00006938 gnomad-MALE GNOMAD FIN 2994 -=1.00000000 TTTTA=0.00000000 gnomad-FIN GNOMAD OTH 890 -=1.00000000 TTTTA=0.00000000 gnomad-OTH GNOMAD ASJ 278 -=1.00000000 TTTTA=0.00000000 gnomad-ASJ GNOMAD   dbSNP summary of Genotypes for ss2949961202 No sufficient data to compute Hardy-weinberg probability for ss2949961202.   Submitted individual genotype for ss2949961202 There is no individual genotype data for ss2949961202.

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