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 8:19956018 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950785, CD992521

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 6 synonyms - click the plus to show

This variant has 3 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 5 transcripts, has 2506 sample genotypes, is associated with 5 phenotypes and is mentioned in 12 citations.

Variant displays