Original source

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

Alleles
A/C/G|Ancestral: A|Ambiguity code: V|MAF: 0.02 (G)
Location

Chromosome 1:186674636 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM024574

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 10 transcripts, has 2962 sample genotypes and is mentioned in 3 citations.

Variant displays