Submitter Handle GNOMAD Submitter SNP ID rs17448457 RefSNP(rs#) rs17448457 Submitted Batch ID genome_batch_chr2 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 T/A/C 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|ss2785063754|allelePos=26|len=51|taxid=9606|alleles='T/A/C'|mol=Genomic GGGTACTTAG GTCATACATG GGAAT H TGTGGGTAAT GAAGATTCCT GGGAC   Submitted Frequency for ss2785063754 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter NFE 14966 A=0.21388480 T=0.78611517 C=0.00000000 gnomad-NFE GNOMAD FIN 3488 A=0.27580276 T=0.72419727 C=0.00000000 gnomad-FIN GNOMAD FEMALE 13816 A=0.17754777 T=0.82245225 C=0.00000000 gnomad-FEMALE GNOMAD AFR 8704 A=0.08122702 T=0.91865808 C=0.00011489 gnomad-AFR GNOMAD OTH 976 A=0.17827868 T=0.82172132 C=0.00000000 gnomad-OTH GNOMAD MALE 17072 A=0.16928303 T=0.83065838 C=0.00005858 gnomad-MALE GNOMAD AMR 836 A=0.12081340 T=0.87918663 C=0.00000000 gnomad-AMR GNOMAD ASJ 302 A=0.19205298 T=0.80794704 C=0.00000000 gnomad-ASJ GNOMAD EAS 1616 A=0.08663366 T=0.91336632 C=0.00000000 gnomad-EAS GNOMAD   dbSNP summary of Genotypes for ss2785063754 No sufficient data to compute Hardy-weinberg probability for ss2785063754.   Submitted individual genotype for ss2785063754 There is no individual genotype data for ss2785063754.

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