Most severe consequence
 
Missense variant
Alleles
G/A/C|Ancestral: G|MAF: < 0.01 (C)|Highest population MAF: 0.02
Location

Chromosome 15:48428356 (forward strand)|View in location tab

Evidence status

Clinical significance

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni1-Quad, Illumina_HumanOmni5, Illumina_ExomeChip

Original source

Variants (including SNPs and indels) imported from dbSNP (release 149)|View in dbSNP

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature, has 2787 sample genotypes and is associated with 8 phenotypes.

Variant displays