Submitter Handle GNOMAD Submitter SNP ID rs4648347 RefSNP(rs#) rs4648347 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 T/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|ss2750975607|allelePos=26|len=51|taxid=9606|alleles='T/C'|mol=Genomic TCAATATTTA AGGAGTGCCT GCCTT Y CACGCATAGT GGTCTAGGGA GACAA   Submitted Frequency for ss2750975607 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AMR 836 C=0.54904306 T=0.45095694 gnomad-AMR GNOMAD EAS 1612 T=0.67990077 C=0.32009926 gnomad-EAS GNOMAD FEMALE 13786 C=0.54199910 T=0.45800087 gnomad-FEMALE GNOMAD NFE 14934 C=0.67979109 T=0.32020891 gnomad-NFE GNOMAD ASJ 300 C=0.59333330 T=0.40666667 gnomad-ASJ GNOMAD OTH 976 C=0.63831967 T=0.36168033 gnomad-OTH GNOMAD AFR 8694 T=0.75017256 C=0.24982747 gnomad-AFR GNOMAD FIN 3478 C=0.63082230 T=0.36917770 gnomad-FIN GNOMAD MALE 17044 C=0.51760149 T=0.48239851 gnomad-MALE GNOMAD   dbSNP summary of Genotypes for ss2750975607 No sufficient data to compute Hardy-weinberg probability for ss2750975607.   Submitted individual genotype for ss2750975607 There is no individual genotype data for ss2750975607.

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