Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B|MAF: 0.49 (T)
Location

Chromosome 2:48963902 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM062747

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 12 transcripts, has 4052 sample genotypes, is associated with 2 phenotypes and is mentioned in 18 citations.

Variant displays