Variant: 17:43110549 A / AAAAAT

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

17-43110549-A-AAAAATAAAAT

Warning! This variant is only covered in 467 individuals (adjusted allele number = 934).
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: rs10628158
Allele Frequency: 0.166
Allele Count: 155 / 934
UCSC: 17-43110549-A-AAAAAT
ClinVar: Click to search for variant in Clinvar
Heterozygote Number: 73
Homozygote Number: 46

Site Quality Metrics

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:

intron

BRCA1 - ENST00000471181 *

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

Population Frequencies

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Variant: 17:43110549 A / AAAAAT

Variant: 17:43110549 A / AAAAAT

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

Links

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