Submitter Handle GNOMAD Submitter SNP ID gnomad_17_48451985 RefSNP(rs#) rs1482024664 Submitted Batch ID genome_batch_chr17 Submitted Date May 23, 2017 Publication Cited N.D. First entry to dbSNP May 23 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|ss2950482231|allelePos=26|len=51|taxid=9606|alleles='G/A'|mol=Genomic CTCAGCACTT TGGGAGGCCA AGGCG R GCGGATCACT TGAGGTCAGG AGTTC   Submitted Frequency for ss2950482231 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter NFE 14978 G=0.99973297 A=0.00026706 gnomad-NFE GNOMAD AFR 8720 G=1.00000000 A=0.00000000 gnomad-AFR GNOMAD FEMALE 13844 G=0.99985552 A=0.00014447 gnomad-FEMALE GNOMAD MALE 17088 G=0.99988294 A=0.00011704 gnomad-MALE GNOMAD OTH 980 G=1.00000000 A=0.00000000 gnomad-OTH GNOMAD AMR 838 G=1.00000000 A=0.00000000 gnomad-AMR GNOMAD EAS 1620 G=1.00000000 A=0.00000000 gnomad-EAS GNOMAD ASJ 302 G=1.00000000 A=0.00000000 gnomad-ASJ GNOMAD FIN 3494 G=1.00000000 A=0.00000000 gnomad-FIN GNOMAD   dbSNP summary of Genotypes for ss2950482231 No sufficient data to compute Hardy-weinberg probability for ss2950482231.   Submitted individual genotype for ss2950482231 There is no individual genotype data for ss2950482231.

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