Variant: 2:47635632 G / A

Filter Status: PASS
dbSNP: rs193922373
Allele Frequency: 1.649e-05
Filtering AF: 0 (None)
Allele Count: 2 / 121290
UCSC: 2-47635632-G-A
ClinVar: Click to search for variant in Clinvar

Genotype Quality Metrics

Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above

Site Quality Metrics

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

Annotations

This variant falls on 4 transcripts in 1 genes:

missense

MSH2

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	Allele Frequency
European (Non-Finnish)	1	66680	1.5e-05
East Asian	0	8652	0
Other	0	906	0
African	0	10358	0
Latino	0	11574	0
South Asian	1	16506	6.058e-05
European (Finnish)	0	6614	0
Total	2	121290	1.649e-05

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.