Original source

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

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

Chromosome 11:68425226 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM053293

Most severe consequence
 
Missense variant
Evidence status

This variant has 2 synonyms - click the plus to show

This variant has 4 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 2 transcripts, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays