Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 2:71602794 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM980575 ; PhenCode DYSF:c.3892A>G (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 27 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 17 transcripts, has 2504 sample genotypes and is associated with 6 phenotypes.

Variant displays