Submitter Handle GNOMAD Submitter SNP ID rs4648417 RefSNP(rs#) rs4648417 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 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|ss2750973981|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic GGCACCACTG CACCTCCAGC CTGGG Y GACAGAACGA GACTCCATCT CAAAA   Submitted Frequency for ss2750973981 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter EAS 1520 C=0.67828947 T=0.32171053 gnomad-EAS GNOMAD NFE 13410 C=0.88717377 T=0.11282625 gnomad-NFE GNOMAD FEMALE 12152 C=0.90083939 T=0.09916063 gnomad-FEMALE GNOMAD OTH 840 C=0.87380952 T=0.12619048 gnomad-OTH GNOMAD MALE 15342 C=0.89538521 T=0.10461478 gnomad-MALE GNOMAD AFR 7774 C=0.97607410 T=0.02392591 gnomad-AFR GNOMAD ASJ 286 C=0.88111889 T=0.11888112 gnomad-ASJ GNOMAD FIN 2898 C=0.89958590 T=0.10041407 gnomad-FIN GNOMAD AMR 766 C=0.75065273 T=0.24934725 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2750973981 No sufficient data to compute Hardy-weinberg probability for ss2750973981.   Submitted individual genotype for ss2750973981 There is no individual genotype data for ss2750973981.

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