Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/C | Ancestral: T | Ambiguity code: Y | MAF: < 0.01 (C)
Location

Chromosome 19:11378051 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM962728

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 8 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, has 2543 sample genotypes and is associated with 4 phenotypes.

Variant displays