Original source

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

Alleles
A/G/T|Ancestral: A|Ambiguity code: D|MAF: 0.43 (G)
Location

Chromosome 2:203867991 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970403

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 16 HGVS names - Show

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 10 transcripts, has 4121 sample genotypes, is associated with 6 phenotypes and is mentioned in 185 citations.

Variant displays