Original source

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

Alleles
A/T | Ancestral: A | Ambiguity code: W | MAF: < 0.01 (T)
Location

Chromosome 6:57194817 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM071964

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 13561

This variation has 5 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, has 2504 individual genotypes and is associated with 2 phenotypes.

Variation displays