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

Co-located variants

HGMD-PUBLIC CM950785, CD992521

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

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

About this variant

This variant overlaps 5 transcripts, has 3128 sample genotypes, is associated with 5 phenotypes and is mentioned in 12 citations.

Variant displays