Variant: 17:43088803 CAA / C

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

Warning! This variant is only covered in 274 individuals (adjusted allele number = 548).
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: rs1491078008
Allele Frequency: 0.007299
Allele Count: 4 / 548
UCSC: 17-43088803-CAA-C
ClinVar: Click to search for variant in Clinvar
Heterozygote Number: 101
Homozygote Number: 12

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

Population	Frequency
{{pop.population}}	{{pop.af}}
Total	{{variant.allele_freq}}

Population	Frequency
{{pop.population}}	{{pop.af}}

Population	Frequency
{{pop.population}}	{{pop.af}}

Contact Us

Building No.11, Beishan Industrial Zone,
Yantian District, Shenzhen
Email: GMGD@service.genomics.cn

Variant: 17:43088803 CAA / C

Variant: 17:43088803 CAA / C

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

Links

Contact Us