Submitter Handle GNOMAD Submitter SNP ID rs4648351 RefSNP(rs#) rs4648351 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/A 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|ss2750881102|allelePos=26|len=51|taxid=9606|alleles='G/A'|mol=Genomic CTTCCCACCC AGGGATGGGC CCGGA R GCTCAGGTTC TCCCCTGGGG TCAGC   Submitted Frequency for ss2750881102 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FIN 3490 G=0.68395418 A=0.31604585 gnomad-FIN GNOMAD NFE 14960 G=0.74993318 A=0.25006685 gnomad-NFE GNOMAD EAS 1614 G=0.80297399 A=0.19702603 gnomad-EAS GNOMAD FEMALE 13812 G=0.67745441 A=0.32254562 gnomad-FEMALE GNOMAD OTH 980 G=0.69693875 A=0.30306122 gnomad-OTH GNOMAD AMR 838 G=0.59427208 A=0.40572792 gnomad-AMR GNOMAD AFR 8684 G=0.53189772 A=0.46810225 gnomad-AFR GNOMAD MALE 17056 G=0.67899859 A=0.32100141 gnomad-MALE GNOMAD ASJ 302 G=0.78145695 A=0.21854305 gnomad-ASJ GNOMAD   dbSNP summary of Genotypes for ss2750881102 No sufficient data to compute Hardy-weinberg probability for ss2750881102.   Submitted individual genotype for ss2750881102 There is no individual genotype data for ss2750881102.

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