Submitter Handle GNOMAD Submitter SNP ID gnomad_2_201779261 RefSNP(rs#) rs1490176290 Submitted Batch ID genome_batch_chr2 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/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|ss2785087583|allelePos=26|len=51|taxid=9606|alleles='G/A/C'|mol=Genomic TCACACCTAT AATCTCACCC CTTTG V GAGACTGAGG TGGGAGGACT GCTTG   Submitted Frequency for ss2785087583 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FEMALE 13836 C=0.00007228 G=0.99992770 A=0.00000000 gnomad-FEMALE GNOMAD NFE 14972 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-NFE GNOMAD OTH 982 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-OTH GNOMAD AFR 8726 C=0.00022920 G=0.99965620 A=0.00011460 gnomad-AFR GNOMAD EAS 1622 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-EAS GNOMAD MALE 17088 G=0.99988294 A=0.00005852 C=0.00005852 gnomad-MALE GNOMAD ASJ 302 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-ASJ GNOMAD AMR 836 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-AMR GNOMAD FIN 3484 G=1.00000000 A=0.00000000 C=0.00000000 gnomad-FIN GNOMAD   dbSNP summary of Genotypes for ss2785087583 No sufficient data to compute Hardy-weinberg probability for ss2785087583.   Submitted individual genotype for ss2785087583 There is no individual genotype data for ss2785087583.

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