Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.08 (T)
Location

Chromosome 19:44908822 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM860003

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

This variant has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 6 transcripts, has 3334 sample genotypes, is associated with 9 phenotypes and is mentioned in 172 citations.

Variant displays