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Submitted SNP(ss) Details: ss2750600849           
Submitter
HandleGNOMAD
Submitter SNP IDrs200279319
RefSNP(rs#)rs200279319
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|ss2750600849|allelePos=26|len=51|taxid=9606|alleles='C/A'|mol=Genomic
 ACCCTAACCC TAACCCTAAC CCTAA
 M
 CCCTAACCCT AACCCTAAAC CCTAA

  Submitted Frequency for ss2750600849 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
FEMALE88C=1.00000000
A=0.00000000
gnomad-FEMALEGNOMAD
NFE144C=1.00000000
A=0.00000000
gnomad-NFEGNOMAD
OTH16C=1.00000000
A=0.00000000
gnomad-OTHGNOMAD
EAS2C=1.00000000
A=0.00000000
gnomad-EASGNOMAD
ASJ2C=1.00000000
A=0.00000000
gnomad-ASJGNOMAD
AMR6C=1.00000000
A=0.00000000
gnomad-AMRGNOMAD
MALE114C=0.99122804
A=0.00877193
gnomad-MALEGNOMAD
AFR20C=0.94999999
A=0.05000000
gnomad-AFRGNOMAD
FIN12C=1.00000000
A=0.00000000
gnomad-FINGNOMAD


  dbSNP summary of Genotypes for ss2750600849 back to top
No sufficient data to compute Hardy-weinberg probability for ss2750600849.


  Submitted individual genotype for ss2750600849 back to top
There is no individual genotype data for ss2750600849.