Warning! This variant is only covered in 466 individuals (adjusted allele number = 932).
This means that the site is covered in fewer than 80% of the individuals in GMGD, which may indicate a low-quality site.


Genome build
GRCh37
Filter Status
PASS
dbSNP
rs535500515
Allele Frequency
0.001073
Allele Count
1 / 932
UCSC
17-43092352-G-A
ClinVar
Click to search for variant in Clinvar
Heterozygote Number
1
Homozygote Number
0
Note: These are site-level quality metrics: they may be unpredictable for multi-allelic sites.
Annotations

This variant falls on 1 transcripts in 1 genes:

missense
Note: This list may not include additional transcripts in the same gene that the variant does not overlap.
Population Frequencies
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