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: ss2750600952           
Submitter
HandleGNOMAD
Submitter SNP IDgnomad_1_10588
RefSNP(rs#)rs1401244958
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 AlleleC/A
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|ss2750600952|allelePos=26|len=51|taxid=9606|alleles='C/A'|mol=Genomic
 CGCAGCTCCG CCCTCGCGGT GCTCT
 M
 CGGGTCTGTG CTGAGGAGAA CGCAA

  Submitted Frequency for ss2750600952 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
AFR7552C=1.00000000
A=0.00000000
gnomad-AFRGNOMAD
FEMALE11986C=0.99991655
A=0.00008343
gnomad-FEMALEGNOMAD
AMR598C=1.00000000
A=0.00000000
gnomad-AMRGNOMAD
FIN3016C=1.00000000
A=0.00000000
gnomad-FINGNOMAD
MALE14612C=1.00000000
A=0.00000000
gnomad-MALEGNOMAD
OTH808C=0.99876237
A=0.00123762
gnomad-OTHGNOMAD
EAS1006C=1.00000000
A=0.00000000
gnomad-EASGNOMAD
ASJ244C=1.00000000
A=0.00000000
gnomad-ASJGNOMAD
NFE13374C=1.00000000
A=0.00000000
gnomad-NFEGNOMAD


  dbSNP summary of Genotypes for ss2750600952 back to top
No sufficient data to compute Hardy-weinberg probability for ss2750600952.


  Submitted individual genotype for ss2750600952 back to top
There is no individual genotype data for ss2750600952.

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