Rs6839787 RefSNP Report - DbSNP - NCBI
ALFA Allele Frequency The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
---|---|---|---|---|---|---|---|---|
Total | Global | 21260 | C=0.02437 | T=0.97563 | 0.000564 | 0.951834 | 0.047601 | 0 |
European | Sub | 16038 | C=0.02862 | T=0.97138 | 0.000748 | 0.943509 | 0.055743 | 0 |
African | Sub | 3380 | C=0.0068 | T=0.9932 | 0.0 | 0.986391 | 0.013609 | 0 |
African Others | Sub | 114 | C=0.000 | T=1.000 | 0.0 | 1.0 | 0.0 | N/A |
African American | Sub | 3266 | C=0.0070 | T=0.9930 | 0.0 | 0.985915 | 0.014085 | 0 |
Asian | Sub | 146 | C=0.007 | T=0.993 | 0.0 | 0.986301 | 0.013699 | 0 |
East Asian | Sub | 120 | C=0.008 | T=0.992 | 0.0 | 0.983333 | 0.016667 | 0 |
Other Asian | Sub | 26 | C=0.00 | T=1.00 | 0.0 | 1.0 | 0.0 | N/A |
Latin American 1 | Sub | 146 | C=0.027 | T=0.973 | 0.0 | 0.945205 | 0.054795 | 0 |
Latin American 2 | Sub | 610 | C=0.021 | T=0.979 | 0.0 | 0.957377 | 0.042623 | 0 |
South Asian | Sub | 104 | C=0.000 | T=1.000 | 0.0 | 1.0 | 0.0 | N/A |
Other | Sub | 836 | C=0.022 | T=0.978 | 0.0 | 0.956938 | 0.043062 | 0 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
TopMed | Global | Study-wide | 264690 | C=0.021678 | T=0.978322 |
gnomAD - Genomes | Global | Study-wide | 140146 | C=0.020950 | T=0.979050 |
gnomAD - Genomes | European | Sub | 75910 | C=0.02798 | T=0.97202 |
gnomAD - Genomes | African | Sub | 41982 | C=0.00662 | T=0.99338 |
gnomAD - Genomes | American | Sub | 13652 | C=0.03157 | T=0.96843 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=0.0132 | T=0.9868 |
gnomAD - Genomes | East Asian | Sub | 3130 | C=0.0000 | T=1.0000 |
gnomAD - Genomes | Other | Sub | 2148 | C=0.0275 | T=0.9725 |
The PAGE Study | Global | Study-wide | 78698 | C=0.01361 | T=0.98639 |
The PAGE Study | AfricanAmerican | Sub | 32514 | C=0.00667 | T=0.99333 |
The PAGE Study | Mexican | Sub | 10810 | C=0.01665 | T=0.98335 |
The PAGE Study | Asian | Sub | 8318 | C=0.0002 | T=0.9998 |
The PAGE Study | PuertoRican | Sub | 7918 | C=0.0469 | T=0.9531 |
The PAGE Study | NativeHawaiian | Sub | 4532 | C=0.0093 | T=0.9907 |
The PAGE Study | Cuban | Sub | 4230 | C=0.0255 | T=0.9745 |
The PAGE Study | Dominican | Sub | 3828 | C=0.0136 | T=0.9864 |
The PAGE Study | CentralAmerican | Sub | 2450 | C=0.0155 | T=0.9845 |
The PAGE Study | SouthAmerican | Sub | 1982 | C=0.0146 | T=0.9854 |
The PAGE Study | NativeAmerican | Sub | 1260 | C=0.0238 | T=0.9762 |
The PAGE Study | SouthAsian | Sub | 856 | C=0.002 | T=0.998 |
14KJPN | JAPANESE | Study-wide | 28258 | C=0.00007 | T=0.99993 |
Allele Frequency Aggregator | Total | Global | 21260 | C=0.02437 | T=0.97563 |
Allele Frequency Aggregator | European | Sub | 16038 | C=0.02862 | T=0.97138 |
Allele Frequency Aggregator | African | Sub | 3380 | C=0.0068 | T=0.9932 |
Allele Frequency Aggregator | Other | Sub | 836 | C=0.022 | T=0.978 |
Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=0.021 | T=0.979 |
Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=0.027 | T=0.973 |
Allele Frequency Aggregator | Asian | Sub | 146 | C=0.007 | T=0.993 |
Allele Frequency Aggregator | South Asian | Sub | 104 | C=0.000 | T=1.000 |
8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.00012 | T=0.99988 |
1000Genomes_30x | Global | Study-wide | 6404 | C=0.0148 | T=0.9852 |
1000Genomes_30x | African | Sub | 1786 | C=0.0039 | T=0.9961 |
1000Genomes_30x | Europe | Sub | 1266 | C=0.0292 | T=0.9708 |
1000Genomes_30x | South Asian | Sub | 1202 | C=0.0058 | T=0.9942 |
1000Genomes_30x | East Asian | Sub | 1170 | C=0.0000 | T=1.0000 |
1000Genomes_30x | American | Sub | 980 | C=0.045 | T=0.955 |
1000Genomes | Global | Study-wide | 5008 | C=0.0152 | T=0.9848 |
1000Genomes | African | Sub | 1322 | C=0.0053 | T=0.9947 |
1000Genomes | East Asian | Sub | 1008 | C=0.0000 | T=1.0000 |
1000Genomes | Europe | Sub | 1006 | C=0.0318 | T=0.9682 |
1000Genomes | South Asian | Sub | 978 | C=0.006 | T=0.994 |
1000Genomes | American | Sub | 694 | C=0.045 | T=0.955 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.0281 | T=0.9719 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.0291 | T=0.9709 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.0348 | T=0.9652 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.0000 | A=0.0000, G=0.0000, T=1.0000 |
Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.0000 | T=1.0000 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.030 | T=0.970 |
SGDP_PRJ | Global | Study-wide | 558 | C=0.009 | T=0.991 |
Qatari | Global | Study-wide | 216 | C=0.023 | T=0.977 |
Siberian | Global | Study-wide | 56 | C=0.00 | T=1.00 |
The Danish reference pan genome | Danish | Study-wide | 40 | C=0.03 | T=0.97 |
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