Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 19:44948823 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930032

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 13 HGVS names - click the plus to show

This variant has assays on 5 chips - click the plus to show

About this variant

This variant overlaps 10 transcripts, has 2935 sample genotypes and is associated with 2 phenotypes.

Variant displays