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: ss2750600991           
Submitter
HandleGNOMAD
Submitter SNP IDrs10218493
RefSNP(rs#)rs10218493
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 AlleleG/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: 8
Genotype SummaryN.D.
Genotype SubmissionN.D.
HaplotypeN.D.

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss2750600991|allelePos=26|len=51|taxid=9606|alleles='G/A'|mol=Genomic
 TGCTACCGCG TCCAGGGGTG GAGGC
 R
 TGGCGCAGGC GCAGAGAGGC GCACC

  Submitted Frequency for ss2750600991 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
FEMALE302G=0.68874174
A=0.31125829
gnomad-FEMALEGNOMAD
NFE128G=0.86718750
A=0.13281250
gnomad-NFEGNOMAD
OTH4G=0.75000000
A=0.25000000
gnomad-OTHGNOMAD
EAS58G=0.77586210
A=0.22413793
gnomad-EASGNOMAD
ASJ2G=1.00000000
A=0.00000000
gnomad-ASJGNOMAD
AMR4G=1.00000000
A=0.00000000
gnomad-AMRGNOMAD
MALE392G=0.70408165
A=0.29591838
gnomad-MALEGNOMAD
AFR498G=0.64056224
A=0.35943776
gnomad-AFRGNOMAD


  dbSNP summary of Genotypes for ss2750600991 back to top
No sufficient data to compute Hardy-weinberg probability for ss2750600991.


  Submitted individual genotype for ss2750600991 back to top
There is no individual genotype data for ss2750600991.