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Submitted SNP(ss) Details: ss2759742380           
Submitter
HandleGNOMAD
Submitter SNP IDrs12021513
RefSNP(rs#)rs12021513
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/T
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|ss2759742380|allelePos=26|len=51|taxid=9606|alleles='C/T'|mol=Genomic
 CTAGCTGGTT ATTTTGCACA TTAGT
 Y
 GATGCAGTTT CTTCATAGGG TTGTT

  Submitted Frequency for ss2759742380 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
FEMALE13814C=0.68712902
T=0.31287101
gnomad-FEMALEGNOMAD
NFE14970C=0.67942554
T=0.32057449
gnomad-NFEGNOMAD
OTH980C=0.65816325
T=0.34183672
gnomad-OTHGNOMAD
EAS1612T=0.69044667
C=0.30955335
gnomad-EASGNOMAD
ASJ302C=0.73178810
T=0.26821193
gnomad-ASJGNOMAD
AMR834C=0.54916066
T=0.45083934
gnomad-AMRGNOMAD
MALE17078C=0.68807822
T=0.31192178
gnomad-MALEGNOMAD
AFR8702C=0.81498504
T=0.18501493
gnomad-AFRGNOMAD
FIN3492C=0.61769760
T=0.38230240
gnomad-FINGNOMAD


  dbSNP summary of Genotypes for ss2759742380 back to top
No sufficient data to compute Hardy-weinberg probability for ss2759742380.


  Submitted individual genotype for ss2759742380 back to top
There is no individual genotype data for ss2759742380.