Submitter Handle GNOMAD Submitter SNP ID rs149094393 RefSNP(rs#) rs149094393 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 GACG/- Ancestral Allele N.D. Allele Origin N/A SNP Class DIV 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|ss2750670004|allelePos=26|len=51|taxid=9606|alleles='GACG/-'|mol=Genomic CCATCTCTTA AAAAACAAAT ACATA N GACAGACAGA CACACACACC ACAGT   Submitted Frequency for ss2750670004 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter NFE 15016 GACG=1.00000000 -=0.00000000 gnomad-NFE GNOMAD AFR 8702 GACG=0.97575271 -=0.02424730 gnomad-AFR GNOMAD EAS 1622 GACG=1.00000000 -=0.00000000 gnomad-EAS GNOMAD FEMALE 13850 GACG=0.99451262 -=0.00548736 gnomad-FEMALE GNOMAD ASJ 302 GACG=1.00000000 -=0.00000000 gnomad-ASJ GNOMAD FIN 3494 GACG=1.00000000 -=0.00000000 gnomad-FIN GNOMAD MALE 17106 GACG=0.99199110 -=0.00800889 gnomad-MALE GNOMAD AMR 838 GACG=0.99880666 -=0.00119332 gnomad-AMR GNOMAD OTH 982 GACG=0.99898165 -=0.00101833 gnomad-OTH GNOMAD   dbSNP summary of Genotypes for ss2750670004 No sufficient data to compute Hardy-weinberg probability for ss2750670004.   Submitted individual genotype for ss2750670004 There is no individual genotype data for ss2750670004.

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