Submitter Handle GNOMAD Submitter SNP ID gnomad_22_47337493 RefSNP(rs#) rs1048527172 Submitted Batch ID genome_batch_chr22 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 AT/- 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|ss2975348431|allelePos=26|len=51|taxid=9606|alleles='AT/-'|mol=Genomic TATATACAGG GAATATATAT ACGGA N ATATATACGC GGAATATATA TACGG   Submitted Frequency for ss2975348431 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AMR 464 AT=1.00000000 -=0.00000000 gnomad-AMR GNOMAD NFE 14770 AT=0.99966151 -=0.00033852 gnomad-NFE GNOMAD OTH 836 AT=1.00000000 -=0.00000000 gnomad-OTH GNOMAD FEMALE 12514 AT=0.99976027 -=0.00023973 gnomad-FEMALE GNOMAD EAS 1608 AT=1.00000000 -=0.00000000 gnomad-EAS GNOMAD AFR 8388 AT=0.99988079 -=0.00011922 gnomad-AFR GNOMAD MALE 15806 AT=0.99981022 -=0.00018980 gnomad-MALE GNOMAD ASJ 298 AT=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD FIN 1956 AT=1.00000000 -=0.00000000 gnomad-FIN GNOMAD   dbSNP summary of Genotypes for ss2975348431 No sufficient data to compute Hardy-weinberg probability for ss2975348431.   Submitted individual genotype for ss2975348431 There is no individual genotype data for ss2975348431.

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