Submitter Handle GNOMAD Submitter SNP ID rs200139083 RefSNP(rs#) rs200139083 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 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|ss2750649476|allelePos=26|len=51|taxid=9606|alleles='G/A'|mol=Genomic CCTGCAGGTA GGAGCCGTGC TGTGC R TGCATAAGAG GGGGCCGTGA CTCCC   Submitted Frequency for ss2750649476 Population ID  -Class Sample (2n) Major Allele Freq. Minor Allele Freq. Estimated Heterozygosity +/-std.err. Genotype Freq. Submitted Hetero- zygosity Submission Batch Submitter FIN 3492 G=1.00000000 A=0.00000000 gnomad-FIN GNOMAD FEMALE 13834 G=0.99985540 A=0.00014457 gnomad-FEMALE GNOMAD ASJ 302 G=1.00000000 A=0.00000000 gnomad-ASJ GNOMAD OTH 982 G=0.99898165 A=0.00101833 gnomad-OTH GNOMAD AMR 838 G=1.00000000 A=0.00000000 gnomad-AMR GNOMAD NFE 14966 G=0.99986637 A=0.00013364 gnomad-NFE GNOMAD MALE 17090 G=0.99994147 A=0.00005851 gnomad-MALE GNOMAD AFR 8722 G=1.00000000 A=0.00000000 gnomad-AFR GNOMAD EAS 1622 G=1.00000000 A=0.00000000 gnomad-EAS GNOMAD   dbSNP summary of Genotypes for ss2750649476 No sufficient data to compute Hardy-weinberg probability for ss2750649476.   Submitted individual genotype for ss2750649476 There is no individual genotype data for ss2750649476.

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement