Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.17 (T)
Location

Chromosome 2:218384290 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM057841

Most severe consequence
 
Missense variant
Evidence status

Synonyms
HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 15 transcripts, has 3784 sample genotypes and is mentioned in 7 citations.

Variant displays