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 19:55156239 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM020189 ; PhenCode FHC0402 (G/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

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

Genotyping chips

This variation has assays on: Illumina_HumanOmni1-Quad, Illumina_HumanOmni5

About this variant

This variant overlaps 23 transcripts, has 2504 individual genotypes and is associated with 3 phenotypes.

Variation displays