Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.18 (A)
Location

Chromosome 11:69087895 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM083200

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

11:g.69087895G>A
ENST00000542467.1:c.1655G>A
ENSP00000445551.1:p.Gly552Glu
ENST00000442692.2:n.1667G>A
ENST00000294309.7:c.2201G>A
ENSP00000294309.3:p.Gly734Glu

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 4 transcripts, has 3797 sample genotypes, is associated with 2 phenotypes and is mentioned in 7 citations.

Variant displays