Submitter Handle GNOMAD Submitter SNP ID rs4986991 RefSNP(rs#) rs4986991 Submitted Batch ID genome_batch_chr8 Submitted Date May 19, 2017 Publication Cited N.D. First entry to dbSNP May 19 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/G 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|ss2863915056|allelePos=26|len=51|taxid=9606|alleles='T/C/G'|mol=Genomic ATCTAATAGA GTTCAAGACT CTGAG B GAGGAAGAAA TAGAAAAAGT GCTGA   Submitted Frequency for ss2863915056 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter AFR 8722 C=0.01501949 T=0.98475122 G=0.00022931 gnomad-AFR GNOMAD FIN 3490 G=0.00028653 T=0.99971348 C=0.00000000 gnomad-FIN GNOMAD EAS 1622 T=1.00000000 C=0.00000000 G=0.00000000 gnomad-EAS GNOMAD MALE 17104 C=0.00508653 T=0.99444574 G=0.00046773 gnomad-MALE GNOMAD AMR 838 C=0.00119332 T=0.99880666 G=0.00000000 gnomad-AMR GNOMAD ASJ 302 T=1.00000000 C=0.00000000 G=0.00000000 gnomad-ASJ GNOMAD NFE 15006 G=0.00039984 T=0.99946690 C=0.00013328 gnomad-NFE GNOMAD FEMALE 13858 C=0.00346370 T=0.99646413 G=0.00007216 gnomad-FEMALE GNOMAD OTH 982 C=0.00101833 T=0.99898165 G=0.00000000 gnomad-OTH GNOMAD   dbSNP summary of Genotypes for ss2863915056 No sufficient data to compute Hardy-weinberg probability for ss2863915056.   Submitted individual genotype for ss2863915056 There is no individual genotype data for ss2863915056.

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