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 1:42830821 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM055162 ; PhenCode BGMUT_757 (G/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts, has 2504 individual genotypes and is associated with 2 phenotypes.

Variation displays