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Submitted SNP(ss) Details: ss2864753972           
Submitter
HandleGNOMAD
Submitter SNP IDrs56344740
RefSNP(rs#)rs56344740
Submitted Batch IDgenome_batch_chr8
Submitted DateMay 19, 2017
Publication CitedN.D.
First entry to dbSNPMay 19 2017 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
Genomic
MethodGNOMAD
Ascertainment Samplesize30992
PopulationN.D.
Allele
Observed AlleleG/T/A
Ancestral AlleleN.D.
Allele OriginA:Germline C:Germline
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|ss2864753972|allelePos=26|len=51|taxid=9606|alleles='G/T/A'|mol=Genomic
 AGTCAGCATC CTCAGACCGC AGGTG
 D
 TCGGCAATGT AGTGCACACC TTCCA

  Submitted Frequency for ss2864753972 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
FEMALE13850G=0.99805057
T=0.00194946
A=0.00000000
gnomad-FEMALEGNOMAD
NFE14986G=0.99526227
T=0.00473776
A=0.00000000
gnomad-NFEGNOMAD
OTH982G=0.99592668
T=0.00407332
A=0.00000000
gnomad-OTHGNOMAD
EAS1622G=1.00000000
A=0.00000000
T=0.00000000
gnomad-EASGNOMAD
ASJ302G=1.00000000
A=0.00000000
T=0.00000000
gnomad-ASJGNOMAD
AMR838G=0.99642003
T=0.00357995
A=0.00000000
gnomad-AMRGNOMAD
MALE17106G=0.99655092
T=0.00339062
A=0.00005846
gnomad-MALEGNOMAD
AFR8732G=0.99919838
T=0.00068713
A=0.00011452
gnomad-AFRGNOMAD
FIN3494G=0.99971378
T=0.00028620
A=0.00000000
gnomad-FINGNOMAD


  dbSNP summary of Genotypes for ss2864753972 back to top
No sufficient data to compute Hardy-weinberg probability for ss2864753972.


  Submitted individual genotype for ss2864753972 back to top
There is no individual genotype data for ss2864753972.