Submitter Handle GNOMAD Submitter SNP ID rs4648349 RefSNP(rs#) rs4648349 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 G/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|ss2750976275|allelePos=26|len=51|taxid=9606|alleles='G/C'|mol=Genomic CCAGCCTGGG CGACAGAGCG AGACC S TCTCAAAGGC TTATGGGTTT CTGAT   Submitted Frequency for ss2750976275 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter MALE 17084 G=0.62754625 C=0.37245375 gnomad-MALE GNOMAD FIN 3494 G=0.72009158 C=0.27990842 gnomad-FIN GNOMAD FEMALE 13834 G=0.64175218 C=0.35824779 gnomad-FEMALE GNOMAD OTH 982 G=0.72912425 C=0.27087575 gnomad-OTH GNOMAD ASJ 302 G=0.64238411 C=0.35761589 gnomad-ASJ GNOMAD EAS 1618 G=0.83559948 C=0.16440049 gnomad-EAS GNOMAD AMR 838 G=0.74940336 C=0.25059667 gnomad-AMR GNOMAD NFE 14972 G=0.73771042 C=0.26228961 gnomad-NFE GNOMAD AFR 8712 C=0.63865930 G=0.36134067 gnomad-AFR GNOMAD   dbSNP summary of Genotypes for ss2750976275 No sufficient data to compute Hardy-weinberg probability for ss2750976275.   Submitted individual genotype for ss2750976275 There is no individual genotype data for ss2750976275.

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