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1:209961970 C / G

Note: This variant is multiallelic! The other alt alleles are:

Warning! This variant is only covered in 32770 individuals (adjusted allele number = 65540).
This means that the site is covered in fewer than 80% of the individuals in ExAC, which may indicate a low-quality site.


Filter Status
VQSRTrancheSNP99.90to99.95
dbSNP
rs200166664
Allele Frequency
0.07115
Filtering AF
0.189 (Latino)
Allele Count
4663 / 65540
UCSC
1-209961970-C-G
ClinVar
Click to search for variant in Clinvar
Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above

Note: These are site-level quality metrics: they may be unpredictable for multi-allelic sites.

Annotations

This variant falls on 6 transcripts in 3 genes:

Note: This list may not include additional transcripts in the same gene that the variant does not overlap.
Population Frequencies
Population Allele Count Allele Number Number of Homozygotes Allele Frequency
European (Non-Finnish) 2051 39610 0 0.05178
East Asian 582 3528 0 0.165
Other 26 482 0 0.05394
African 450 3942 0 0.1142
Latino 864 4318 0 0.2001
South Asian 329 12056 0 0.02729
European (Finnish) 361 1604 0 0.2251
Total 4663 65540 0 0.07115

Read Data

This interactive IGV.js visualization shows reads that went into calling this variant.
Note: These are reassembled reads produced by GATK HaplotypeCaller --bamOutput so they accurately represent what HaplotypeCaller was seeing when it called this variant.