Submitter Handle GNOMAD Submitter SNP ID gnomad_17_47778860 RefSNP(rs#) rs1447035898 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 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|ss2950428303|allelePos=26|len=51|taxid=9606|alleles='T/C'|mol=Genomic CTTAGCTCCT TTCCCAAACT TGGCA Y CAAGACCAAG ACCTATGAAA AGGAA   Submitted Frequency for ss2950428303 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter MALE 17108 T=1.00000000 C=0.00000000 gnomad-MALE GNOMAD NFE 15006 T=1.00000000 C=0.00000000 gnomad-NFE GNOMAD FIN 3488 T=1.00000000 C=0.00000000 gnomad-FIN GNOMAD AFR 8724 T=1.00000000 C=0.00000000 gnomad-AFR GNOMAD EAS 1622 T=1.00000000 C=0.00000000 gnomad-EAS GNOMAD OTH 982 T=0.99898165 C=0.00101833 gnomad-OTH GNOMAD FEMALE 13852 T=0.99992782 C=0.00007219 gnomad-FEMALE GNOMAD ASJ 302 T=1.00000000 C=0.00000000 gnomad-ASJ GNOMAD AMR 836 T=1.00000000 C=0.00000000 gnomad-AMR GNOMAD   dbSNP summary of Genotypes for ss2950428303 No sufficient data to compute Hardy-weinberg probability for ss2950428303.   Submitted individual genotype for ss2950428303 There is no individual genotype data for ss2950428303.

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