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Submitted SNP(ss) Details: ss2982856248           
Submitter
HandleGNOMAD
Submitter SNP IDrs12557182
RefSNP(rs#)rs12557182
Submitted Batch IDgenome_batch_chrX
Submitted DateMay 23, 2017
Publication CitedN.D.
First entry to dbSNPMay 23 2017 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
Genomic
MethodGNOMAD
Ascertainment Samplesize30992
PopulationN.D.
Allele
Observed AlleleA/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|ss2982856248|allelePos=26|len=51|taxid=9606|alleles='A/C'|mol=Genomic
 CTCTTGTCCT CAAACTCATG AATTT
 M
 GAATGATGTT GAGCAAAAGG TCTTT

  Submitted Frequency for ss2982856248 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
FEMALE13860A=0.99141413
C=0.00858586
gnomad-FEMALEGNOMAD
NFE10635A=0.99830747
C=0.00169252
gnomad-NFEGNOMAD
FIN2600A=0.97576922
C=0.02423077
gnomad-FINGNOMAD
AMR613A=0.94290376
C=0.05709625
gnomad-AMRGNOMAD
AFR5957A=0.99345309
C=0.00654692
gnomad-AFRGNOMAD
ASJ189A=0.99470901
C=0.00529101
gnomad-ASJGNOMAD
EAS1042A=0.97984648
C=0.02015355
gnomad-EASGNOMAD
MALE7902A=0.99139458
C=0.00860542
gnomad-MALEGNOMAD
OTH726A=0.98622590
C=0.01377410
gnomad-OTHGNOMAD


  dbSNP summary of Genotypes for ss2982856248 back to top
No sufficient data to compute Hardy-weinberg probability for ss2982856248.


  Submitted individual genotype for ss2982856248 back to top
There is no individual genotype data for ss2982856248.

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