NCBI
dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Submitted SNP(ss) Details: ss2750679722           
Submitter
HandleGNOMAD
Submitter SNP IDrs1320571
RefSNP(rs#)rs1320571
Submitted Batch IDgenome_batch_chr1
Submitted DateMay 17, 2017
Publication CitedN.D.
First entry to dbSNPMay 17 2017 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
Genomic
MethodGNOMAD
Ascertainment Samplesize30992
PopulationN.D.
Allele
Observed AlleleG/A/C
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassSNV
CpG CodeN.D.
Validation
Validation StatusNot Validated
HWE Goodness of Fitnot applicable
Homozygote Detected
PCR Confirmed
In Expressed Sequence
Variation
Frequency Submissionpopulation count: 9
Genotype SummaryN.D.
Genotype SubmissionN.D.
HaplotypeN.D.

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss2750679722|allelePos=26|len=51|taxid=9606|alleles='G/A/C'|mol=Genomic
 ATGGAACACC TCAACCGCTA CATCA
 V
 TGACACGTTC TGGAAGGCCC GGGGC

  Submitted Frequency for ss2750679722 back to top

Population ID
 -Class
Sample
(2n)
Major
Allele
Freq.
Minor
Allele
Freq.
Estimated
Heterozygosity
+/-std.err.
Genotype
Freq.
Submitted
Hetero-
zygosity
Submission
Batch
Submitter
FEMALE13834A=0.12635535
G=0.87335551
C=0.00028914
gnomad-FEMALEGNOMAD
AFR8708A=0.32728526
G=0.67271477
C=0.00000000
gnomad-AFRGNOMAD
EAS1618A=0.11186650
G=0.88813353
C=0.00000000
gnomad-EASGNOMAD
MALE17092A=0.12830564
G=0.87163585
C=0.00005851
gnomad-MALEGNOMAD
NFE14990A=0.04022682
G=0.95950633
C=0.00026684
gnomad-NFEGNOMAD
FIN3494A=0.05237550
G=0.94762450
C=0.00000000
gnomad-FINGNOMAD
OTH980A=0.06224490
G=0.93775511
C=0.00000000
gnomad-OTHGNOMAD
ASJ302A=0.07947020
G=0.92052978
C=0.00000000
gnomad-ASJGNOMAD
AMR834A=0.04676259
G=0.95203835
C=0.00119904
gnomad-AMRGNOMAD


  dbSNP summary of Genotypes for ss2750679722 back to top
No sufficient data to compute Hardy-weinberg probability for ss2750679722.


  Submitted individual genotype for ss2750679722 back to top
There is no individual genotype data for ss2750679722.

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