Submitter Handle GNOMAD Submitter SNP ID rs2244693 RefSNP(rs#) rs2244693 Submitted Batch ID genome_batch_chr6 Submitted Date May 18, 2017 Publication Cited N.D. First entry to dbSNP May 18 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|ss2835087516|allelePos=26|len=51|taxid=9606|alleles='T/C'|mol=Genomic GAGACGCTCG TGTGAACACA GGCGC Y GCTCCTGTCA CGGCCCCTTA CTCGC   Submitted Frequency for ss2835087516 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 13820 C=0.63661361 T=0.36338639 gnomad-FEMALE GNOMAD ASJ 302 C=0.74172187 T=0.25827813 gnomad-ASJ GNOMAD OTH 978 C=0.67280161 T=0.32719836 gnomad-OTH GNOMAD EAS 1608 C=0.81467664 T=0.18532339 gnomad-EAS GNOMAD MALE 17070 C=0.63866431 T=0.36133566 gnomad-MALE GNOMAD FIN 3490 C=0.59484243 T=0.40515760 gnomad-FIN GNOMAD AMR 838 C=0.73269689 T=0.26730311 gnomad-AMR GNOMAD AFR 8702 C=0.54033554 T=0.45966443 gnomad-AFR GNOMAD NFE 14972 C=0.67566121 T=0.32433876 gnomad-NFE GNOMAD   dbSNP summary of Genotypes for ss2835087516 No sufficient data to compute Hardy-weinberg probability for ss2835087516.   Submitted individual genotype for ss2835087516 There is no individual genotype data for ss2835087516.

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