Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.37 (A)
Location

Chromosome 8:127416393 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM073275

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 4 transcripts, has 2634 sample genotypes and is mentioned in 3 citations.

Variant displays